Thursday, May 9, 2013

About Us

DNA Attorney ServicesSince 2007, DNA Attorney Services has been providing service of process to Philadelphia and surrounding areas along with customers throughout Pennsylvania, New Jersey and Delaware with fast, affordable and reliable legal support services. Well known and highly respected in the industry thousands of customers know they can rely on DNA’s proven track record of reliable service and professional expertise.
We care about your business reputationWe understand the impact our services can have on your business, your clients  and your practice.  DNA Attorney Services hires only professional, reliable personnel who are highly trained in both the laws and practices as well as proper etiquette and professional service techniques. Everything we do for your business must meet the highest standards and be done right!
DNA Attorney Services Beginnings
DNA Attorney Services was established by Robert Wagner in 2007. Robert, a United States Marine Corps and Iraq Enduring Freedom Veteran, and an Elected State Constable of Pennsylvania, has comprised a system to provide and expedite your legal services across our great country.
While on duty and during his tenure of being an elected official, Robert has surrounded himself with great people of the same caliber, and in turn with great resources. He felt these same resources would be beneficial for the immediate public, and also attorneys, to comprise what is now known today as DNA Attorney Services.

New 23andMe Ancestry Painting

If you have tested with 23andMe, this is something you have to explore! As DNA testing outgrows its infancy, we are learning so much more about our origins. One of my favorite bloggers tells the story of the latest advances best: http://www.legalgenealogist.com/ under the heading "Admixture Advances."

It' isn't too late to order your own tests to see what you can discover.

Good news from FTDNA....

f you have tested with a different DNA company, you very likely now have the opportunity to transfer your results to Family Tree DNA at little or no cost, depending on the company you tested with initially.

Why would you want to do that?

Because FTDNA has the largest database, is highly regarded in the field, is entirely dedicated to genetic genealogy and offers an ever-increasing array of testing opportunities to learn more about your own genetic makeup and to increase the opportunities to extend your genealogy. In addition, a huge number of surname, geographic and haplogroup projects are actively managed at FTDNA, and you will have the opportunity to participate in those.

Breakthrough in DNA Studies

The New York Times' lead story today is about the incredible advances just announced in the study of human disease and traits. The story can be found here. Another excellent story is in Discover magazine. The discovery of "switches" in what was once considered "junk DNA" that control how cells, organs and other tissues behave may finally lead to understanding the complexities of cancer, depression, high blood pressure and many other health issues that are difficult to predict and treat.

Oetzi the Iceman's nuclear genome gives new insights

New clues have emerged in what could be described as the world's oldest murder case: that of Oetzi the "Iceman", whose 5,300-year-old body was discovered frozen in the Italian Alps in 1991. See theBBC news article.

The research team gathered information about Ötzi’s ancestry.His Y chromosome possesses mutations most commonly found among men from Sardinia and Corsica, and his nuclear genome puts his closest present-day relatives in the same area. Perhaps Ötzi’s kind once lived across Europe, before dying out or interbreeding with other groups everywhere except on those islands. 

The full article published in Nature.com can be purchased here.

Scotland's DNA: Who do you think you are? - Part 4

The Scotman newpaper continue their series of articles based on Alastair Moffat's radio programme, The Scots: A Genetic Journey.

The latest article can be found here Scotland's DNA: Who do you think you are? - Part 4 

Here is a snapshot of particular interest to me personally. It concerns the MacLeods and a new marker called S68 (also known as L165). This was discovered by Dr Jim Wilson and is bringing fresh insight into the origins of Clan MacLeod.

Clan MacLeod is a fascinating case study. From a sample of the DNA of 45 Macleod Y chromosomes almost half, 47 per cent, clearly show social selection at work in that they descend from one individual. If this statistic is projected amongst the total number of MacLeods, it means that almost 10,000 men alive today are descended from this man. Among the remaining 53 per cent, researchers have found only nine other lineages present, showing that MacLeod men married women who were unfailingly faithful to them.

Nevertheless, the MacLeods do not carry the M17 marker group. Theirs is a recently discovered sub-group labelled S68. It is found in Lewis, Harris and Skye, core Macleod territory, but also in Orkney, Shetland and Norway, with a few examples in Sweden. Despite extensive screening, S68 is very specifically located, showing up only once in the east of Scotland and once in England. This is a classic pattern for a Viking marker in Britain, but one much rarer than M17. MacLeods determinedly claim descent from a common name father, a Norse aristocrat called Ljot, a relative of Olaf, King of Man. They are probably right to continue to claim that – science for once supporting tradition.
Follow this link for analysis of the results from the MacLeod DNA Project and other pages which highlight the deep ancestral relationship to several other surnames.

A new project specifically looking at S68/L165 can be found at R-L165 (S68) Project This marker has also been found in a group of MacDonalds from the Northern Highlands and a group of Bealls (Bells) from Fife. Testing is currently being carried out on a Buie from Jura and a MacNeil.

The MacNeil's of Barra (Group b. orange coloured ) are genetically related by STR matches with the group of MacDonald's mentioned above and who are positive for this marker. Testing is required to confim that these MacNeils also carry this marker, but STR results do suggest that they will also be positive.

Family Tree DNA announce launch of new Y-DNA 111 marker test

This test is primarily for those who have close matches at 67 markers and are seeking to tighten the calculation to Most Recent Common Ancestor by testing an additional 44 markers.

The new test is available as an upgrade for customers with existing Y-DNA67 results and also as a standalone test for individuals looking to prove a close relationship on the direct paternal line: 
Y Refine 67 to 111 (Upgrade)    $101
Y-DNA111    $339

Order via your Family Tree DNA homepage > Order Test & Upgrades > Order Standard Tests or if you are a new customer via this link order FTDNA test

The additional markers being tested are listed on this page - Family Tree DNA STR markers 

The Gene Code - new series from the BBC

A new series is currently showing on BBC 4 on Monday evenings (also available on BBC iPlayer, but not accessible outside the UK).

Programme 1 - The Book of Life
Dr Adam Rutherford takes the viewer on a rollercoaster ride as he explores the consequences of one of the biggest scientific projects of all time - the decoding of the entire human genome in 2000. Adam discovers that every human carries the entire story of life on earth hidden in his or her DNA and sees how we are all linked directly to the origins of life and to the first creatures with backbones. He also investigates the implications of the fact that for much of its existence, the human race was an endangered species.

Programme 2 - Unlocking the Code
How we are coming to understand the very process by which our DNA makes each of us unique.

http://www.bbc.co.uk/programmes/b010j64w 

SNPs - the latest results: St Clair DNA Study

Many folk are well aware of how 37 or 67 Y-DNA marker tests can be used to identify matches within a genealogical time frame, but there is an increasing and welcome interest in 'deep ancestry'.

The history of the human Y-DNA tree is defined at each branch by an SNP (a single-nucleotide polymorphism), a change to a single nucleotide in a DNA sequence. These events are rare but when they do happen, every descendant of the individual in which the event occurred will carry the mutation to the next generation.

Steve St Clair has posted a very helpful video of recent developments in his project which can be viewed here St. Clair DNA Study

I would also recommend a visit to the St. Clair DNA Study website where there are interviews with Bennett Greenspan, Terry Barton and  Richard White

DNA reveals body parts from South Uist mummies belonged to different individuals

DNA tests on British prehistoric mummies revealed they were made of body parts from several different people, arranged to look like one person. The four bodies discovered in 2001 at Cladh Hallan, South Uist, in Scotland's Outer Hebrides were the first evidence in Britain of deliberate mummification.

Archaeologists found the mummies in the foundations of a row of unusual Bronze Age terraced roundhouses. But after being radiocarbon dated, all were found to have died between 300 and 500 years before the houses were built, meaning they had been kept above ground for some time by their descendants.

The results of the DNA work on the Cladh Hallan mummies will feature on the latest series of Digging For Britain on BBC Two in September.

Digging for Britain - Cladh Hallan ancient DNA evidence

Dr Alice Roberts travels back to the Ages of Bronze and Iron where she examines the two Hebridean Bronze Age skeletons known as the Cladh Hallan mummies. Not only do they appear to have been mummified, new analysis has revealed they are made up of a jigsaw of different people. 

Analysis reveals that the two mummies are made up of three people belonging to mitochondrial haplogroups U or U5, T1 (not U, U5) and H (not U, U5 or T1). 

A short video is available on YouTube Cracking the puzzle of the Cladh Hallan Bodies. The full programme can be viewed on BBC iPlayer at Digging for Britain - Series 2 - 3. Age of Bronze and Iron
 
It can also be downloaded to your computer to view (which will expires after 30 days). I am not sure if either of these features are available outside the United Kingdom.
 
The Scottish DNA Project mtDNA results for members can be viewed here

DNA and Social Networking: A Guide to Genealogy in the Twenty-First Century

Debbie Kennett's excellent new book about genetic genealogy and the networking revolution has now been published. Debbie is to be commended in articulating in a very skilful manner what can potentially be a challenging field for the family historian.

Debbie is an active member of the Guild of One-Name Studies and runs several vibrant DNA projects such as the Cruwys surname projectand the geographical DNA project for Devon.

The topic of chapters in the first section include: the basic principles of DNA testing; surnames and the paternal line; before surnames - haplogroups and deep ancestry; the maternal line - mitochondrial DNA tests; cousins reunited - autosomal DNA tests and setting up and running a DNA Project.

Section two includes: traditional genealogical networking methods; genealogy social networking websites; general social networking websites; blogs; wikis; multimedia and collaboratives tools. There are also four appendices: DNA websites; Testing companies; DNA Projects and Surname resources.

All in all a thoroughly helpful resource for the newbie to the field as well as the seasoned genealogist.

Sense About Genealogical DNA Testing

There has been some rather negative press coverage about DNA testing in recent weeks resulting from outrageous claims by one British testing company in particular.  Headlines that individuals are related to the Queen of Sheba, castrated Irish slaves, Napoleon or are descendants of Romans have been made without any data being published in peer reviewed journals.

Sense About Science a charitable trust that equips people to make sense of scientific and medical claims responded to these claims by publishing a guide to testing Sense About Genetic Ancestry Testing 

Unfortunately this publication was selectively quoted by the media tarring genealogical DNA testing with the same brush.

In order to bring some balance back into the conversation Debbie Kennett, well known to many within the genetic genealogy community has been given the opportunity to complement the Sense About Science article.  In a blog post on their website she provides further details about DNA testing for genealogical purposes and why it can be used effectively and legitimately as an additional tool in family history research.

Monday, May 6, 2013

DNA Identity Testing - GenCodex™

What is DNA Identity report - GenCodex ?
DNA Identity testing report ( GenCodexTM ), is an individual DNA profile, and it is a permanent means of individual identification. Unlike a name that may be shared, a social security number that can be stolen, or photographs that change over time, your personal DNA identity remains constant from the moment of conception to the end of life. Your GenCodex ( personal DNA identity print ) demonstrates your genetic similarity to family members as well as the genetic uniqueness that distinguishes you from the rest of the world. It can be used as identification for safety and security, estate planning and protection or as a personal keepsake. Your GenCodexTM - your personal DNA identity print - is accessible to no one but you. However, should you or your family need help from a law enforcement agency – such as in search for a missing person due to an abduction, accident, or a natural disaster – your GenCodex is fully compatible with the nationally recognized DNA identity test standards created by the FBI’s Combined DNA Index System. With your GenCodex readily available, precious time is saved that allows law enforcement to quickly compare your DNA identity to any DNA evidence uncovered.
How Can You Obtain DNA Identity report - GenCodex ?
You may purchase a GenCodex Kit. The materials inside the Kit allow you to collect a DNA sample in the privacy of your home. If you prefer, your DNA sample may also be collected at one of Genetica’s DNA sample collection facilities located throughout the United States. Upon the receipt of your DNA sample, and your GenCodex order form along with payment, Genetica performs DNA identity test analyses and mails the GenCodex certificate ( your personal DNA identity print ) to you within 2 days. As with many other DNA tests we also offer 24 hour GenCodex service. See

Prenatal DNA Paternity Test - The GENETICA DNA Test™

Under certain circumstances, you may find it necessary to perform Prenatal DNA testing - DNA test on an unborn child (fetus) for the purpose of establishing biological paternity. The highly accurate GENETICA DNA Test™ for paternity may be performed before birth of the child. The accuracy of a Prenatal DNA test is not affected by the age of the child or fetus tested, provided that the same rigorous testing procedures are used in the analysis.

A Prenatal DNA paternity test - DNA test during pregnancy must be performed by obtaining either a small sample of the placenta (i.e, chorionic villus sampling), or a sample of amniotic fluid that bathes the baby (i.e, amniocentesis). These fetal samples must be collected by the mother's obstetrician, and their collections pose a slight risk to both the mother and the fetus.

In some cases, the mother's obstetrician may decide to perform chorionic villus sampling or amniocentesis in order to check the health of the unborn baby. When such samples are collected from the fetus by the obstetrician for medical reasons, Genetica DNA laboratories can also conduct Prenatal DNA paternity testing on the same samples (no additional sampling is needed for Prenatal DNA paternity testing). Just contact Genetica DNA Laboratories, and our staff will work with the mother's obstetrician's office to make arrangements for DNA testing of the fetal samples

Strange but true: One person born with two sets of DNA (a chimera)

If you think back to your formaldehyde-scented high school biology class, you may remember learning two things about DNA: first, that it's the "code" for all our genes, and second, that each individual has one and only one set. Otherwise, a person could have two different blood types – which is impossible. Or is it?
As it turns out, high school bio didn't have all the answers. Some people's bodies do indeed contain two sets of DNA.
A person who has more than one set of DNA is a chimera, and the condition is called chimerism. The word comes from the mythical Chimera, a creature in Greek mythology that's part lioness, part goat, and part snake.
The most extreme type of chimerism occurs when a twin dies early on in utero, explains Melissa Parisi, a pediatric researcher with the U.S. National Institutes of Health. In a move that's both bizarre and logical, the surviving twin acquires some of the dead embryo's chromosomes, ending up with two distinct and separate sets of genes.
It seems the stuff of science fiction, or at the very least, high drama – and, in fact, the phenomenon has been featured in television shows like House, All My Children, Law & Order, and Grey's Anatomy.
In real life, the most well-known case is probably that of Lydia Fairchild, who nearly lost custody of her children when DNA testing "proved" she wasn't related to them. Fortunately, doctors eventually determined that she had a second set of DNA that matched.
But you don't have to have had a vanishing twin to be a chimera. Regular fraternal twins can also have the condition. "Twin embryos sometimes 'trade' chromosomes with each other, which makes sense, given their shared blood supply," says Parisi.
And yes, if the twins are boy/girl, the girl could end up with some male chromosomes and the boy with female chromosomes. Does this have visible effects? Sometimes.
"Occasionally, the cell-trading leads to a disorder of sex development, such as a girl having a small amount of testicular tissue," says Parisi. "But while we have a lot of hang-ups about this type of disorder, it's important to remember that it's simply a congenital problem, like a cleft palate or any other."
But that's rare. Most of the time, the chimerism doesn't manifest itself in any easily observed way.
Chimerism doesn't always involve twins. Even mothers and babies "trade" cells during pregnancy, usually in very tiny amounts. "A baby's DNA can end up in the mother's bloodstream, because they are linked together through the placenta," says Parisi.
The reverse is also true: A baby can acquire some of the mother's DNA, in a condition known as microchimerism.
Because chimerism usually doesn't cause problems, it's rarely diagnosed, making it hard for scientists to say how prevalent the phenomenon truly is. It's probably less rare than was once thought. Perhaps many of us are chimeras and just don't know it.

Unraveling the DNA Double Helix

Despite proof that DNA carries genetic information from one generation to the next, the structure of DNA and the mechanism by which genetic information is passed on to the next generation remained the single greatest unanswered question in biology until 1953. It was in that year that James Watson, an American geneticist, and Francis Crick, an English physicist, working at the University of Cambridge in England proposed a double helical structure for DNA. This was the culmination of a brilliant piece of detective work - and a discovery that has proven to be the key to molecular biology and modern biotechnology. Using information derived from a number of other scientists working on various aspects of the chemistry and structure of DNA, Watson and Crick were able to assemble the information like pieces of a jigsaw puzzle to produce their model of the structure of DNA.
It had already been established by chemical studies that DNA was a polymer of nucleotide subunits, each nucleotide comprising a sugar (deoxyribose), phosphate and one of four different bases - the purines, adenine (A) and guanine (G) together with the pyrimidines, thymine (T) and cytosine (C). A most important clue was the discovery in the late 1940s by Erwin Chargaff and his colleagues at Columbia University that the four bases may occur in varying proportions in the DNAs of different organisms, but the number of A residues is always equal to the number of T residues; similarly equal numbers of G and C residues are present. These quantitative relationships are important, not only in establishing the three-dimensional structure of DNA, but also in providing clues on how genetic information is encoded in DNA and passed on from one generation to the next.

DNA Carries Genetic Information

Even though Miescher and many others following him suspected that nuclein or nucleic acid might play a key role in cell inheritance, others argued that their lack of chemical diversity compared to, say, proteins ruled out such a possibility. It was not until 1943 that the first direct evidence emerged for DNA as the bearer of genetic information. In that year, Oswald Avery, Colin MacLeod, and Maclyn McCarty, working at the Rockefeller Institute, discovered that DNA taken from a virulent (disease-causing) strain of the bacterium Streptococcus pneumonae permanently transformed a non-virulent (or inactive) form of the organism into a virulent form.
Avery and his colleagues concluded from these experiments that it was the DNA from the virulent strain which carried the genetic message for virulence and that it became permanently incorporated into the DNA of the recipient non-virulent cells. Although the scientific community was slow to adopt the idea that DNA was the carrier of genetic information, a subsequent experiment provided evidence that this was indeed the case. In 1952, Alfred Hershey and Martha Chase showed by means of radioactive isotope tracer experiments that when a bacterial virus (bacteriophage T2) infects its host cell (the bacterium Escherichia coli), it is the DNA of the T2 virus, and not its protein coat, which enters the host cell and provides the genetic information for replication of the virus.
From these very important early experiments, and a wealth of other corroborating evidence, it is now certain that DNA is the carrier of genetic information in all living cells.

The History of DNA Research

The history of deoxyribonucleic acid (DNA) research begins with Friedrich Miescher, a Swiss biologist who in 1868 carried out the first carefully thought out chemical studies on the nuclei of cells. Using the nuclei of pus cells obtained from discarded surgical bandages, Miescher detected a phosphorus-containing substance that he named nuclein. He showed that nuclein consists of an acidic portion, which we know today as DNA, and a basic protein portion now recognized as histones, a class of proteins responsible for the packaging of DNA. Later he found a similar substance in the heads of salmon sperm cells. Although he separated the nucleic acid fraction and studied its properties, the covalent structure of DNA did not become known with certainty until the late 194Os.

Male DNA found in female brains

Children live on in their mothers’ brains for decades, and not just as memories. Scientists have found pockets of male DNA, presumably from boy fetuses, in the brain tissue of women who died in their 70s.
Not only is male DNA present in women’s brains, it’s common, researchers report online September 26 in PLOS ONE. J. Lee Nelson of the Fred Hutchinson Cancer Research Center in Seattle and her colleagues found snippets of a male-only gene in the brains of 18 of 26 women who died without neurological disease. The male DNA was spread throughout their brains.
The technique used in the study couldn’t distinguish if the DNA was from intact, functional brain cells, though in a separate test of brain tissue from a different woman, Nelson and colleagues did spot nuclei from male cells in the brain. Earlier studies in mice hinted that these foreign cells can integrate themselves into the brain and start functioning as nerve cells.
So far, cells from fetuses have turned up in women’s blood, livers, lungs, heart and other organs, so finding male DNA in the brain isn’t a complete shock, says geneticist Kirby Johnson of Tufts University in Medford, Mass., who wasn’t involved in the study. “From everything we knew, it’s not really that surprising.”What’s interesting is how the DNA could have gotten there. Male cells from a fetus could have broken through the blood-brain barrier — a wall that protects the fragile brain from pathogens in the blood. But that shouldn’t be possible, Johnson says.
If the male DNA did come from a fetus during pregnancy, then the genetic material stuck around in the brain for decades after that. The average age for these women at the time of their death was 70. “Maybe these are with us for a lifetime,” Nelson says.
Presumably, mothers can also carry a daughter’s genetic material in their brains; the presence of a Y chromosome simply makes it easier to spot male DNA.
Complete medical records, including pregnancy history, weren’t available for the women in the study, which means the researchers couldn’t rule out sources of cellular mingling other than male fetuses. The male DNA could have come from a male twin whose cells ended up moving into his sister’s body during pregnancy, for instance, or they may have come from an organ donation or blood transfusion, or even an older brother who had previously occupied the same uterus as the women.
What’s more, cells from several generations could mingle in a single person. Because cells also flow from mother to fetus, a pregnant woman possesses cells from both her mother and her child, and that child could inherit his grandmother’s cells.
Fetal cells could be beneficial, harmful or innocuous in a mother’s body. In a follow-up experiment, the researchers found that women with Alzheimer’s had less foreign DNA in their brains than women with healthy brains, hinting that these cells might offer protection from the disease. Those results are too preliminary to be conclusive, Nelson says. In tissues outside the brain, there is preliminary evidence that fetal cells may affect risk for cancer and autoimmune diseases. 

Male DNA found in women's brains

Male DNA is commonly found in the brains of women, a study has found.

The cause of the phenomenon is most likely being pregnant with a boy, say scientists.
No one yet knows the medical implications of the discovery. But there is a suggestion that male DNA in the female brain might protect against Alzheimer's disease.
Other kinds of "microchimerism", the harbouring of genetic material and cells swapped between foetus and mother during pregnancy, have been linked to both beneficial and harmful effects.
A study of 59 deceased women aged 32 to 101 found that the brains of those with Alzheimer's were less likely to contain foetal-derived male DNA. The genetic material was also seen in lower concentrations in regions of the brain most affected by the disease.
But the scientists stressed that the small number of women studied and largely unknown pregnancy history means that no firm conclusions can be drawn from these findings.
Study leader Dr William Chan, from the Fred Hutchinson Cancer Research Centre in Seattle, US, said: "Currently, the biological significance of harbouring male DNA and male cells in the human brain requires further investigation."
The researchers detected male microchimerism in 63% of the brain specimens. Male DNA was distributed in multiple brain regions and appeared to persist throughout life. The oldest woman whose brain contained male foetal DNA was 94.
The findings, published in the online journal Public Library of Science ONE, suggest that foetal cells frequently cross from the bloodstream to the brain.
Previous studies have shown that in some conditions, such as breast cancer, cells of male foetal origin may be protective. In others, such as colon cancer, they have been associated with increased risk.
Research has also found a lower risk of rheumatoid arthritis, an autoimmune disease, in women who have given birth to a son at least once.

Monday, April 29, 2013

DNA and RNA Structure


  • DNA and RNA belong to a class of macromolecules called nucleic acids.
  • Nucleic acids are polynucleotides which means they contain many nucleotides joined together.
  • A nucleotide consists of:
    • One cyclic five-carbon sugar (The carbons found in this sugar are numbered 1' through to 5')
    • One phosphate
    • One nitrogenous base
  • The sugar is deoxyribose in DNA and ribose in RNA. The only difference between the sugars is that ribose has a hydroxyl group (OH) on the 2' carbon and deoxyribose does not. This makes deoxyribose more stable than ribose.
  • The phosphate is linked to the 5' carbon of the sugar in both RNA and DNA.
  • The nitrogenous bases are adenine(A), guanine(G), cytosine(C), thymine(T), and uracil(U).
    • Adenine and guanine are purines (contains a six membered ring of carbon and nitrogen fused to a five membered ring).
    • Adenine and guanine are both found in DNA and RNA.
    • Cytosine, thymine and uracil are pyrmidines (contains a six membered ring of carbon and nitrogen).
    • Cytosine is found in both DNA and RNA, but thymine is only found in DNA and uracil is only found in RNA.
  • A nucleotide is formed when a phosphate attahes to the 5' carbon of the sugar and one of the nitrogenous baseses attaches to the 1' carbon of the sugar.
  • A strand of DNA or RNA consists of nucleotides linked together by phosphodiester bonds.
    • A phosphodiester bond exists between the phosphate of one nucleotide and the sugar 3' carbon of the the next nucleotide.
    • This forms a backbone of alternating sugar and phosphate molecules known as the "sugar-phosphate backbone".
  • RNA, in most cases, consists of one strand of nucleic acids linked together by phosphodiester bonds.
  • A DNA molecule consists of two strands of nucleotides twisted together to form a double helix.
    • The sugar-phosphate backbone is found on the outside of this helix and the bases are found braching towards the middle.
    • Hydrogen bonds join the the nitrogenous bases and hold the two strands together.

DNA Micro Biology

Hi, and welcome to the DNA microbiology guide online. This is a premium source of DNA and related information, including several interesting videos, a bus load of pictures and some very informative text about DNA. Not only do we have information about microbiology, but we also feature articles on virology, parasitology and more.

DNA Structure

During the 1950s, a tremendous explosion in biological research occurred, and the methods of gene expression were elucidated. The knowledge generated during this period helped explain how genes function in microorganisms and gave rise to the science of molecular genetics. This science is concerned with the activity of deoxyribonucleic acid (DNA) and how that activity brings about the production of proteins in microbial and other cells.

DNA Structure

During the 1950s, a tremendous explosion in biological research occurred, and the methods of gene expression were elucidated. The knowledge generated during this period helped explain how genes function in microorganisms and gave rise to the science of molecular genetics. This science is concerned with the activity of deoxyribonucleic acid (DNA) and how that activity brings about the production of proteins in microbial and other cells.

DNA Structure

During the 1950s, a tremendous explosion in biological research occurred, and the methods of gene expression were elucidated. The knowledge generated during this period helped explain how genes function in microorganisms and gave rise to the science of molecular genetics. This science is concerned with the activity of deoxyribonucleic acid (DNA) and how that activity brings about the production of proteins in microbial and other cells.

DNA Structure

During the 1950s, a tremendous explosion in biological research occurred, and the methods of gene expression were elucidated. The knowledge generated during this period helped explain how genes function in microorganisms and gave rise to the science of molecular genetics. This science is concerned with the activity of deoxyribonucleic acid (DNA) and how that activity brings about the production of proteins in microbial and other cells.

What is a cell?

Cells are the basic building blocks of all living things. The human body is composed of trillions of cells. They provide structure for the body, take in nutrients from food, convert those nutrients into energy, and carry out specialized functions. Cells also contain the body’s hereditary material and can make copies of themselves.
Cells have many parts, each with a different function. Some of these parts, called organelles, are specialized structures that perform certain tasks within the cell. Human cells contain the following major parts, listed in alphabetical order:

What is DNA?

DNA, or deoxyribonucleic acid, is the hereditary material in humans and almost all other organisms. Nearly every cell in a person’s body has the same DNA. Most DNA is located in the cell nucleus (where it is called nuclear DNA), but a small amount of DNA can also be found in the mitochondria (where it is called mitochondrial DNA or mtDNA).
The information in DNA is stored as a code made up of four chemical bases: adenine (A), guanine (G), cytosine (C), and thymine (T). Human DNA consists of about 3 billion bases, and more than 99 percent of those bases are the same in all people. The order, or sequence, of these bases determines the information available for building and maintaining an organism, similar to the way in which letters of the alphabet appear in a certain order to form words and sentences.
DNA bases pair up with each other, A with T and C with G, to form units called base pairs. Each base is also attached to a sugar molecule and a phosphate molecule. Together, a base, sugar, and phosphate are called a nucleotide. Nucleotides are arranged in two long strands that form a spiral called a double helix. The structure of the double helix is somewhat like a ladder, with the base pairs forming the ladder’s rungs and the sugar and phosphate molecules forming the vertical sidepieces of the ladder.
An important property of DNA is that it can replicate, or make copies of itself. Each strand of DNA in the double helix can serve as a pattern for duplicating the sequence of bases. This is critical when cells divide because each new cell needs to have an exact copy of the DNA present in the old cell.

spinal cord

The spinal cord consists of thirty-one pairs of spinal nerves. They are all mixed nerves, and they provide a two-way communication system between the spinal cord and parts of the arms, legs, neck and trunk of the body. Although spinal nerves do not have individual names, they are grouped according to the level from which they stem, and each nerve is numbered in sequence. Hence, there are eight pairs of cervical nerves (numbered C1 - C8), twelve pairs of thoracic nerves (T1 - T12), five pairs...

arachnoid mater

The arachnoid mater is the middle of the meningeal layers, and as its name implies, appears spider-like or more specifically has the appearance of a spider web. The arachnoid mater lies superior to the subarachnoid space, which is located between the arachnoid membrane and the pia mater.

anterior longitudinal ligament

The anterior longitudinal ligament consists of strong, dense fibers, located inside the bodies of the vertebrae. They span nearly the whole length of the spine, beginning with the second vertebrae (or axis), and extending to the sacrum. The ligament is thicker in the middle (or thoracic region). Some of the shorter fibers are separated by circular openings, which allow for the passage of blood vessels.

Skeletal System Anatomy

The skeletal system in an adult body is made up of 206 individual bones. These bones are arranged into two major divisions: the axial skeleton and the appendicular skeleton. The axial skeleton runs along the body’s midline axis and is made up of 80 bones in the following regions:
  • Skull
  • Hyoid
  • Auditory ossicles
  • Ribs
  • Sternum
  • Vertebral column
The appendicular skeleton is made up of 126 bones in the folowing regions:
  • Upper limbs
  • Lower limbs
  • Pelvic girdle
  • Pectoral (shoulder) girdle
Skull
The skull is composed of 22 bones that are fused together except for the mandible. These 21 fused bones are separate in children to allow the skull and brain to grow, but fuse to give added strength and protection as an adult. The mandible remains as a movable jaw bone and forms the only movable joint in the skull with the temporal bone.
The bones of the superior portion of the skull are known as the cranium and protect the brain from damage. The bones of the inferior and anterior portion of the skull are known as facial bones and support the eyes, nose, and mouth.
Hyoid and Auditory Ossicles
The hyoid is a small, U-shaped bone found just inferior to the mandible. The hyoid is the only bone in the body that does not form a joint with any other bone—it is a floating bone. The hyoid’s function is to help hold the trachea open and to form a bony connection for the tongue muscles.
The malleus, incus, and stapes—known collectively as the auditory ossicles—are the smallest bones in the body. Found in a small cavity inside of the temporal bone, they serve to transmit and amplify sound from the eardrum to the inner ear.
Vertebrae
Twenty-six vertebrae form the vertebral column of the human body. They are named by region:
With the exception of the singular sacrum and coccyx, each vertebra is named for the first letter of its region and its position along the superior-inferior axis. For example, the most superior thoracic vertebra is called T1 and the most inferior is called T12.
Ribs and Sternum
The sternum, or breastbone, is a thin, knife-shaped bone located along the midline of the anterior side of the thoracic region of the skeleton. The sternum connects to the ribs by thin bands of cartilage called the costal cartilage.
There are 12 pairs of ribs that together with the sternum form the ribcage of the thoracic region. The first seven ribs are known as “true ribs” because they connect the thoracic vertebrae directly to the sternum through their own band of costal cartilage. Ribs 8, 9, and 10 all connect to the sternum through cartilage that is connected to the cartilage of the seventh rib, so we consider these to be “false ribs.” Ribs 11 and 12 are also false ribs, but are also considered to be “floating ribs” because they do not have any cartilage attachment to the sternum at all.
Pectoral Girdle and Upper Limb
The pectoral girdle connects the upper limb (arm) bones to the axial skeleton and consists of the left and right clavicles and left and right scapulae.
The humerus is the bone of the upper arm. It forms the ball and socket joint of the shoulder with the scapula and forms the elbow joint with the lower arm bones. The radius and ulna are the two bones of the forearm. The ulna is on the medial side of the forearm and forms a hinge joint with the humerus at the elbow. The radius allows the forearm and hand to turn over at the wrist joint.
The lower arm bones form the wrist joint with the carpals, a group of eight small bones that give added flexibility to the wrist. The carpals are connected to the five metacarpals that form the bones of the hand and connect to each of the fingers. Each finger has three bones known as phalanges, except for the thumb, which only has two phalanges.
Pelvic Girdle and Lower Limb
Formed by the left and right hip bones, the pelvic girdle connects the lower limb (leg) bones to the axial skeleton.
The femur is the largest bone in the body and the only bone of the thigh (femoral) region. The femur forms the ball and socket hip joint with the hip bone and forms the knee joint with the tibia and patella. Commonly called the kneecap, the patella is special because it is one of the few bones that are not present at birth. The patella forms in early childhood to support the knee for walking and crawling.
The tibia and fibula are the bones of the lower leg. The tibia is much larger than the fibula and bears almost all of the body’s weight. The fibula is mainly a muscle attachment point and is used to help maintain balance. The tibia and fibula form the ankle joint with the talus, one of the seven tarsal bones in the foot.
The tarsals are a group of seven small bones that form the posterior end of the foot and heel. The tarsals form joints with the five long metatarsals of the foot. Then each of the metatarsals forms a joint with one of the set of phalanges in the toes. Each toe has three phalanges, except for the big toe, which only has two phalanges.
Microscopic Structure of Bones
The skeleton makes up about 30-40% of an adult’s body mass. The skeleton’s mass is made up of nonliving bone matrix and many tiny bone cells. Roughly half of the bone matrix’s mass is water, while the other half is collagen protein and solid crystals of calcium carbonate and calcium phosphate.

Living bone cells are found on the edges of bones and in small cavities inside of the bone matrix. Although these cells make up very little of the total bone mass, they have several very important roles in the functions of the skeletal system. The bone cells allow bones to:
  • Grow and develop
  • Be repaired following an injury or daily wear
  • Be broken down to release their stored minerals
Types of Bones
All of the bones of the body can be broken down into five types: long, short, flat, irregular, and sesamoid.
  • Long. Long bones are longer than they are wide and are the major bones of the limbs. Long bones grow more than the other classes of bone throughout childhood and so are responsible for the bulk of our height as adults. A hollow medullary cavity is found in the center of long bones and serves as a storage area for bone marrow. Examples of long bones include the femur, tibia, fibula, metatarsals, and phalanges.
     
  • Short. Short bones are about as long as they are wide and are often cubed or round in shape. The carpal bones of the wrist and the tarsal bones of the foot are examples of short bones.
     
  • Flat. Flat bones vary greatly in size and shape, but have the common feature of being very thin in one direction. Because they are thin, flat bones do not have a medullary cavity like the long bones. The frontal, parietal, and occipital bones of the cranium—along with the ribs and hip bones—are all examples of flat bones.
     
  • Irregular. Irregular bones have a shape that does not fit the pattern of the long, short, or flat bones. The vertebrae, sacrum, and coccyx of the spine—as well as the sphenoid, ethmoid, and zygomatic bones of the skull—are all irregular bones.
     
  • Sesamoid. The sesamoid bones are formed after birth inside of tendons that run across joints. Sesamoid bones grow to protect the tendon from stresses and strains at the joint and can help to give a mechanical advantage to muscles pulling on the tendon. The patella and the pisiform bone of the carpals are the only sesamoid bones that are counted as part of the 206 bones of the body. Other sesamoid bones can form in the joints of the hands and feet, but are not present in all people.
Parts of Bones
The long bones of the body contain many distinct regions due to the way in which they develop. At birth, each long bone is made of three individual bones separated by hyaline cartilage. Each end bone is called an epiphysis (epi = on; physis = to grow) while the middle bone is called a diaphysis (dia = passing through). The epiphyses and diaphysis grow towards one another and eventually fuse into one bone. The region of growth and eventual fusion in between the epiphysis and diaphysis is called the metaphysis (meta = after). Once the long bone parts have fused together, the only hyaline cartilage left in the bone is found as articular cartilage on the ends of the bone that form joints with other bones. The articular cartilage acts as a shock absorber and gliding surface between the bones to facilitate movement at the joint.
Looking at a bone in cross section, there are several distinct layered regions that make up a bone. The outside of a bone is covered in a thin layer of dense irregular connective tissue called the periosteum. The periosteum contains many strong collagen fibers that are used to firmly anchor tendons and muscles to the bone for movement. Stem cells and osteoblast cells in the periosteum are involved in the growth and repair of the outside of the bone due to stress and injury. Blood vessels present in the periosteum provide energy to the cells on the surface of the bone and penetrate into the bone itself to nourish the cells inside of the bone. The periosteum also contains nervous tissue and many nerve endings to give bone its sensitivity to pain when injured.
Deep to the periosteum is the compact bone that makes up the hard, mineralized portion of the bone. Compact bone is made of a matrix of hard mineral salts reinforced with tough collagen fibers. Many tiny cells called osteocytes live in small spaces in the matrix and help to maintain the strength and integrity of the compact bone.
Deep to the compact bone layer is a region of spongy bone where the bone tissue grows in thin columns called trabeculae with spaces for red bone marrow in between. The trabeculae grow in a specific pattern to resist outside stresses with the least amount of mass possible, keeping bones light but strong. Long bones have a spongy bone on their ends but have a hollow medullary cavity in the middle of the diaphysis. The medullary cavity contains red bone marrow during childhood, eventually turning into yellow bone marrow after puberty.
Articulations
An articulation, or joint, is a point of contact between bones, between a bone and cartilage, or between a bone and a tooth. Synovial joints are the most common type of articulation and feature a small gap between the bones. This gap allows a free range of motion and space for synovial fluid to lubricate the joint. Fibrous joints exist where bones are very tightly joined and offer little to no movement between the bones. Fibrous joints also hold teeth in their bony sockets. Finally, cartilaginous joints are formed where bone meets cartilage or where there is a layer of cartilage between two bones. These joints provide a small amount of flexibility in the joint due to the gel-like consistency of cartilage.

Skeletal System Physiology

Bioscience Collection

The mission of Bioscience Collection is to provide collections of plants, mammals, birds, reptiles and amphibians, insects and mollusks that represent the natural history of New Mexico and southwestern North America (United States and Mexico), and to serve as a safe repository for in-house research specimens. These collections are used for education, research and exhibits. We also have an extensive photographic slide collection of New Mexico plants and birds. The staff consists of one curator, a collection manager and seven dedicated volunteers.
As of 2011, the approximate numbers of catalogued specimens in each of the collections are as follows: Mammals 6,200, Birds 400, Arthropods 6,000, Mollusks 13,500, Reptiles and Amphibians 50, and Plants 3,100.
The majority of biological specimens are voucher specimens resulting from research (mammals and mollusks) conducted by Museum staff. The bird collection consists entirely of salvage specimens. Museum staff and volunteers have collected and developed the plant collection. The insect collection is primarily donated collections from various Museum and non-Museum researchers. The mollusk collection consists of several donated collections and Museum staff research collections. We also house frozen tissue of mammals, birds and mollusks for genetic study.
There have been approximately 20 publications in peer-reviewed journals and one NMMNH Bulletin published on specimens in the Collection.

Our History

Harvard Bioscience is a global developer, manufacturer and marketer of a broad range of specialized products, primarily apparatus and scientific instruments used to advance life science research and regenerative medicine.

It started in the basement... Harvard(1) Bioscience was founded in 1901. Frustrated by the poor quality of equipment then available, Dr. William T. Porter began manufacturing his own high quality physiology teaching equipment in the basement of the Harvard Medical School. Dr. Porter went on to found the American Journal of Physiology and became one of the leading physiologists of his day. His equipment gained an enviable reputation for quality and reliability and began to be known simply as the Harvard Apparatus. The name stuck.

In the early 1980's the company started using the name Harvard Bioscience and in 2000 we officially changed the name of the company to Harvard Bioscience, Inc. In 1996 the current management team took over the company and expanded the product offering and improved growth and profitability. We completed our initial public offering in December 2000.

Both we and physiology have come a long way in 100 years. Today we are a leading worldwide supplier of scientific instruments used to improve life science research. Our products are used across a broad spectrum of both well established and cutting edge applications and are used by the world’s top pharmaceutical and biotech companies.

Our products are typically highly specialized for particular research applications in molecular, cellular, and physiology research. Our products are typically well-established in fairly mature markets with good, but not spectacular, growth rates.

Our brands are typically well-established names that convey quality, consistency and reassurance to scientists concerned about getting the highest quality data from their research. Our brands are often leaders in their niches. These brands include: Harvard Apparatus, Biochrom, Hoefer, Panlab, Warner Instruments, KD Scientific, Hugo Sachs Elektronik, BTX, and Denville Scientific.

Our distribution channels are as well-established as our brands and are intended to give us broad access to scientists across the globe. We sell our products to thousands of researchers in over 100 countries through our full-line catalog (and various other specialty catalogs), our websites and through distributors, including GE Healthcare, Thermo Fisher Scientific and VWR.

(1) Harvard is a registered trademark of Harvard University. The marks Harvard Apparatus and Harvard Bioscience are being used pursuant to a license agreement between Harvard University and Harvard Bioscience, Inc.

stability testing

Demonstration of the stability of an active pharmaceutical ingredient is an essential component in the development and commercialization of biopharmaceutical products.
Charles River Biopharmaceutical Services (BPS) performs stability studies for biopharmaceutical and pharmaceutical products and drug substances at all stages of the registration process. We have considerable experience designing and conducting testing programs to support early development, formal submission studies to the International Conference on Harmonisation (ICH) guidelines and commitment studies for the continued marketing of existing drug products. This experience has been gained through more than 15 years of stability testing for clients and successful support of their product applications.
Fully mapped and monitored storage facilities are available for the complete range of ICH conditions plus the sub-ambient conditions of -20°C, -30°C, -70°C and -80°C more suitable for biological products.
Studies are conducted according to current Good Manufacturing Practice (cGMP) guidelines. BPS has been approved as a named laboratory on multiple product licenses by the US Food and Drug Administration (FDA), US Department of Agriculture (USDA) and European regulatory authorities.

residual DNA detection

The detection and quantification of minute amounts of residual host cell DNA can be accomplished using any one of three highly sensitive, validated methods. These methods encompass the entire range of residual DNA from nonspecific detection of total DNA to highly specific detection of single target sequences. The methods used are:
  • The ThresholdTM System from Molecular Devices® uses DNA binding proteins with high affinity for single-stranded DNA for nonspecific quantification of total DNA.
  • A hybridization-based method for the detection of the specific DNA of defined origin with dot blots and hybridization of radioisotope-labeled DNA probes uses random hexamers to generate representative probes covering the whole genome of the host cells.
  • A quantitative PCR-based method for the detection of specific DNA of defined origin targets a specific gene sequence for amplification and is calibrated using purified, species-matched, genomic DNA.

molecular biology

Detailed characterization of nucleic acid products is an essential part of the development program for recombinant products. A comprehensive array of analytical services to support this characterization is available at Charles River Biopharmaceutical Services (BPS). These methods are applied to determine the genetic stability of recombinant products and for the characterization of plasmid products.
Genetic Stability Testing
The genetic stability of recombinant cell lines needs to be demonstrated according to regulatory guidelines. The identity and integrity of recombinant genes has to be verified and shown to be stable throughout the production process. Stability is supported by characterization studies of cells at the end of production and comparing those attributes to those of the master cell bank. Identity may be addressed by DNA sequencing and comparing the results to a reference sequence. Genetic integrity is often confirmed by restriction enzyme analysis followed by Southern blotting and comparing the resulting fragment sizes to the expected sizes.
Determination of Copy Number
Genetically modified cell banks are characterized to quantify the number of copies of a recombinant gene or plasmid. Charles River has experience performing these types of studies on animal, bacterial and yeast cell banks. Both quantitative Southern blot analysis and quantitative PCR can be used to determine the copy number of one or more target sequences.
DNA Sequencing
BPS offers validated, current Good Manufacturing Practice (cGMP)-compliant DNA sequencing of recombinant gene constructs, plasmids and viruses. Sequencing can be accomplished using either the LiCORTM or Applied Biosystems DNA sequencing systems. Both systems provide at least two-fold, and in some cases three-fold, coverage on each DNA strand to ensure accuracy.
The extensive experience of Charles River with sample purification and preparation enables us to analyze samples in many different matrices. Samples are generally tested with and without the addition of known, small amounts of genomic DNA (“spikes”) to detect and control for potential interference.

endotoxin & pyrogenicity

Endotoxin and pyrogen detection is vital step for you to gain market approval for your product. Charles River Biopharmaceutical Services (BPS) offers this service as part of our process manufacturing support network.
Endotoxin Testing
Our in vitro bacterial endotoxin testing, including gel-clot (qualitative), kinetic turbidimetric and chromogenic methods (quantitative), are carried out to meet all pharmacopoeia requirements. We provide preliminary screening and validation of products as well as a backup technical service. Test results are available within one to three days.
In addition, our Endotoxin and Microbial Detection group offers a line of rapid testing systems, which includes assays for fast and easy endotoxin analysis, glucan contamination, Gram determination and protein concentration.
Pyrogenicity Testing
We have extensive experience conducting in vivo pyrogenicity testing. To support this testing, newly refurbished, dedicated, pyrogen testing facilities are available.
Monocyte Activation Test
The monocyte activation test (MAT) is used to detect or quantify substances that activate human monocytes or monocytic cells to release endogenous mediators. It has been added to the portfolio offered by BPS following the recent changes to the European Pharmacopeia monograph (04/2010:20630). Charles River offers the assessment of pyrogenicity by quantifying the release of IL-1β from cryopreserved human blood (ELISA). A panel of cytokines, including tumor necrosis factor alpha (TNFα), interleukin-6 (IL-6) and interleukin-8 (IL-8), can also be included for assessment.

host cell protein assay

One of the objectives in designing a downstream process for biopharmaceutical products is to remove any possible contaminating proteins, including host cell proteins (HCPs). HCPs can still be present at significant concentrations following several purification steps and can even be co-purified and concentrated with the drug substance itself. Multiple purification steps may be needed to remove HCPs, however, each purification step also has the potential for additional loss of product. Therefore, during the development of a downstream process, suitable assays must be available to determine both the concentration of the product and the amount of HCP present.
The type of assay required to determine HCP concentration is dependent upon the phase of product development. In the early process development phase as well as in early clinical phases, generic assays are normally acceptable. Charles River offers generic host cell protein assays for E. coli and CHO-derived products. These assays have been developed and validated on a generic sample matrix. They may be useful in the early stages of process development for a general investigation into HCP burden. Additionally, kits on any kind of cell systems may be used and adapted for a client matrix as well.
However, once the biopharmaceutical is used in clinical phase III studies, a validated, product-specific HCP assay is normally required. We have developed many specific assays on different cell matrices to quantify HCP using either ILA or ELISA. Assay development starts with testing for a suitable, specific antigen which has been produced by our client. This antigen will be used to immunize the animals from which the antisera will be obtained. After purification and qualification of the antibodies, a specific detection system is developed and optimized for the specific matrix. According to regulatory authorities, the assay should be validated prior to use in the quality control of a biopharmaceutical. The development and validation of a client-specific HCP assay normally requires between six and twelve months. Therefore, development of the assay should begin as soon as the downstream process development has been finalized.

molecular biology

Detailed characterization of nucleic acid products is an essential part of the development program for recombinant products. A comprehensive array of analytical services to support this characterization is available at Charles River Biopharmaceutical Services (BPS). These methods are applied to determine the genetic stability of recombinant products and for the characterization of plasmid products.
Genetic Stability Testing
The genetic stability of recombinant cell lines needs to be demonstrated according to regulatory guidelines. The identity and integrity of recombinant genes has to be verified and shown to be stable throughout the production process. Stability is supported by characterization studies of cells at the end of production and comparing those attributes to those of the master cell bank. Identity may be addressed by DNA sequencing and comparing the results to a reference sequence. Genetic integrity is often confirmed by restriction enzyme analysis followed by Southern blotting and comparing the resulting fragment sizes to the expected sizes.
Determination of Copy Number
Genetically modified cell banks are characterized to quantify the number of copies of a recombinant gene or plasmid. Charles River has experience performing these types of studies on animal, bacterial and yeast cell banks. Both quantitative Southern blot analysis and quantitative PCR can be used to determine the copy number of one or more target sequences.
DNA Sequencing
BPS offers validated, current Good Manufacturing Practice (cGMP)-compliant DNA sequencing of recombinant gene constructs, plasmids and viruses. Sequencing can be accomplished using either the LiCORTM or Applied Biosystems DNA sequencing systems. Both systems provide at least two-fold, and in some cases three-fold, coverage on each DNA strand to ensure accuracy.
The extensive experience of Charles River with sample purification and preparation enables us to analyze samples in many different matrices. Samples are generally tested with and without the addition of known, small amounts of genomic DNA (“spikes”) to detect and control for potential interference.

DNA in Saliva with Oragene

The Oragene self-collection kit for DNA from saliva from DNA Genotek, Inc. provides an all-in-one system for the collection, stabilization, and transportation of DNA from saliva. Blood samples are invasive to collect, as well as complex and costly to ship, store and process. Buccal swabs provide a low quality and quantity of DNA.
Eliminate these challenges by collecting superior samples with the Oragene sample collection product line.
  • Easy collection, transportation and processing
  • Painless, non-invasive collection of high-quality, high-quantity DNA
  • DNA is stable for years at ambient temperature
  • Proven on downstream applications

Difference Between Gene and Allele

A gene is a part of the DNA. Alleles on the other hand refer to different versions of the same gene. There are other more subtle differences between the two and this is what we are going to explore on this page:
  • Genes are the different parts of the DNA that decide the genetic traits a person is going to have. Alleles are the different sequences on the DNA-they determine a single characteristic in an individual.
  • Another important difference between the two is that alleles occur in pairs. They are also differentiated into recessive and dominant categories. Genes do not have any such differentiation.
  • An interesting difference between alleles and genes is that alleles produce opposite phenotypes that are contrasting by nature. When the two partners of a gene are homogeneous in nature, they are called homozygous. However, if the pair consists of different alleles, they are called heterozygous. In heterozygous alleles, the dominant allele gains an expression.
  • The dominance of a gene is determined by whether the AA and Aa are alike phenotypically. It is easier to find dominants because they express themselves better when they are paired with either allele.
  • Alleles are basically different types of the same gene. Let’s explain this to you in this way- If your eye color was decided by a single gene, the color blue would be carried by one allele and the color green by another. Fascinating, isn’t it?
  • All of us inherit a pair of genes from each of our parents. These genes are exactly the same for each other. So what causes the differences between individuals? It is the result of the alleles.
  • The difference between the two becomes more pronounced in the case of traits. A trait refers to what you see, so it is the physical expression of the genes themselves. Alleles determine the different versions of the genes that we see. A gene is like a machine that has been put together. However, how it will works will depend on the alleles.
Both alleles and genes play an all important role in the development of living forms. The difference is most colorfully manifest in humans of course! So next time you see the variety of hair color and eye color around you, take a moment and admire the phenomenal power of both the gene and the allele!
Summary:
1. Genes are something we inherit from our parents- alleles determine how they are expressed in an individual.
2. Alleles occur in pairs but there is no such pairing for genes.
3. A pair of alleles produces opposing phenotypes. No such generalization can be assigned to genes.
4. Alleles determine the traits we inherit.
5. The genes we inherit are the same for all humans. However, how these manifest themselves is actually determined by alleles!

Difference Between DNA and Genes

The terms gene and DNA are often used to mean the same. However, in reality, they stand for very different things. So, next time you want to blame your baldness on your father and don’t know whether to berate your genes or your DNA, take a look at the differences below:
DNA stands for deoxyribonucleic acid. This is the chain of ‘links’ that determines how the different cells in your body will function. Each of these links is called a nucleotide. DNA basically contains two copies of 23 chromosomes each, one from the mother and one from the father of the person. Only some of these complex cells carry the ‘genetic information for your genes. These are the parts that decide what you basically inherit from your parents. This makes genes only a subset of the DNA.
Your genes define the fundamental traits you will inherit from your parents. They are parts of the DNA that determine how the cells are going to live and function. They are special colonies of nucleotides that decide how proteins are going to carry on the process of building and reproducing in your body. All living things depend on their genes to determine how they are going to develop in their lives and how they, in turn are going to pass on their genetic traits to their offspring.
For instance, if you thought about the human body as a book that contained only DNA, the genes would be the chapter containing instructions on how to make proteins and assist in cell production. The other chapters may contain other details like where the cells should start producing new proteins etc.
The DNA is like an instruction booklet that determines the traits you are likely to get. The entire DNA in a human body is packaged in the form of chromosomes. Each of these chromosomes has definite characters that will determine a particular trait. This includes such details like your hair color and the color of your eyes. Each of these chapters that contain the codes for a particular trait is known as a gene. So, if you are confused, just think about the gene as a small piece of the total DNA that holds information about a particular trait you have.
The study of genetics has gained widespread acclaim in recent times. However, it was only with the discovery of the DNA that a scientific basis for the genes we inherit was established.
Both DNA and genes are the most basic building blocks of your body. They determine how your cells are going to behave throughout your life. Now you know who to thank for those brains!
Summary:
1.   Genes are a part of the DNA.
2.  Genes determine the traits you will inherit from your parents, DNA determines a lot more.
3.  Genes have been studied for a long time now. The study of DNA is a relatively recent development.

Human genetic variation

Human genetic variation is the genetic differences both within and among populations. There may be multiple variants of any given gene in the human population (genes), leading to polymorphism. Many genes are not polymorphic, meaning that only a single allele is present in the population: the gene is then said to be fixed.[1]
No two humans are genetically identical. Even monozygotic twins, who develop from one zygote, have infrequent genetic differences due to mutations occurring during development and gene copy number variation.[2] Differences between individuals, even closely related individuals, are the key to techniques such as genetic fingerprinting. Alleles occur at different frequencies in different human populations, with populations that are more geographically and ancestrally remote tending to differ more.
Causes of differences between individuals include the exchange of genes during meiosis and various mutational events. There are at least two reasons why genetic variation exists between populations. Natural selection may confer an adaptive advantage to individuals in a specific environment if an allele provides a competitive advantage. Alleles under selection are likely to occur only in those geographic regions where they confer an advantage. The second main cause of genetic variation is due to the high degree of neutrality of most mutations. Most mutations do not appear to have any selective effect one way or the other on the organism. The main cause is genetic drift, this is the effect of random changes in the gene pool. In humans, founder effect and past small population size (increasing the likelihood of genetic drift) may have had an important influence in neutral differences between populations. The theory that humans recently migrated out of Africa supports this.
The study of human genetic variation has both evolutionary significance and medical applications. It can help scientists understand ancient human population migrations as well as how different human groups are biologically related to one another. For medicine, study of human genetic variation may be important because some disease-causing alleles occur more often in people from specific geographic regions. New findings show that each human has on average 60 new mutations compared to their parents.[3][4] Apart from mutations, many genes that may have aided humans in ancient times plague humans today. For example, it is suspected that genes that allow humans to more efficiently process food are those that make people susceptible to obesity and diabetes today.