By Alex Blake

DNA testing is done for many different reasons.  Sometimes DNA evidence can link an alleged criminal to a crime scene or DNA paternity and maternity testing can identify a child’s father or mother. While DNA relationship testing can determine if two individuals are full or half siblings and DNA ancestry testing can determine ethnic origins and genealogical roots.

How DNA testing is done depends on the results desired and the samples available. DNA profiling is the process of analyzing and comparing two DNA samples. Only identical twins have the exact same DNA sequence, everyone else’s DNA is unique. This makes DNA the perfect way to link individuals to each other or to locations where they have been.

The entire DNA chain is incredibly long, much to long to examine all of it. Human DNA is made up of about 3.3 billion base pairs. The differences between DNA samples occur only in small segments of the DNA–the rest of the DNA is very similar. DNA testing focuses on those segments that are known to differ from person to person.

As DNA testing has evolved over time, the testing methods have become more precise and are able to work with much smaller DNA samples. Early DNA testing was done using dime-size drops of blood. Today’s tests can extract DNA from the back of a licked stamp (in some cases) but is most often done by using cheek swabs.  These cheek swabs are easy to collect, painless and very accurate The DNA must be extracted from whatever sample is provided. DNA must be isolated and purified before it can be compared. In essence, it has to be “unlocked” from the cell in which it exists. The cell walls are usually dissolved with a detergent. Proteins in the cell are digested by enzymes. After this process, the DNA is purified, concentrated, and tested.

DNA testing is done most often today using a process called “short tandem repeats,” or STR. Human DNA has several regions of repeated sequences. These regions are found in the same place on the DNA chain, but the repeated sequences are different for each individual. The “short” tandem repeats (repeated sequences of two to five base pairs in length) have been proven to provide excellent DNA profiling results. STR is highly accurate–the chance of misidentification being one in several billion.

I just came across an article distributed by the Slate discussing the above topic. This brought my thinking to the use of DNA and the idea of anonymity in general.

DNA testing makes them easy to trace
By Rachel Lehmann-Haupt Last Updated Monday, March 1, 2010, at 9:36 AM ET

When Donor 3066 signed up with the California Cryobank, he offered some basic information about himself on a piece of paper: that he had a BA in theater; that his mother was a nurse and his father was in the Baseball Hall of Fame; that his birthday was Sept. 18, 1968. He made it clear that he didn’t want to be found by signing a waiver of anonymity…

Donor 3066 was being sought out by Michelle Jorgenson, a 39-year-old waitress from Sacramento, Calif., whose daughter, Cheyenne, was born in 1998.  When her daughter turned 5, Jorgenson joined the Donor Sibling Registry and began searching for other mothers and donor offspring who used Donor 3066. She was concerned because her daughter was sensitive to sounds and walked on her toes, and she wanted to know if other half-siblings were displaying similar behavior. Through the registry, she met a number of other mothers and half-siblings. She discovered that two had autism and two others showed similar signs of sensory disorder…

Jorgenson began her search by approaching a mother in her group with a son named Joshua and suggested he do a cheek swab so she could explore his paternal roots through a Y chromosome test. The mother agreed. Through the test, Michelle learned about some of Joshua’s genetic markers. A few weeks of searching on the Family Tree DNA Web site using these markers led to two families with matching DNA. Through one of the families, she met a woman who mentioned that she found the obit of a relative who was a former baseball manager, and three children were listed. Michelle suspected that this might be her donor’s father, so she looked up the phone number of his listed son. When Michelle called the number, the deceased man’s son answered the phone. She began to ask him questions: Was your father in the Baseball Hall of Fame? Were you born in Illinois? Did you ever donate sperm? When the man said yes, she asked him if his birthday was Sept. 18, 1968. When he answered yes, she burst into tears. “You’re the biological father of my daughter,” she said. He was shocked but agreed to talk to Cheyenne on the phone—and eventually allowed the two to come visit him in Los Angeles.

Although in this case there appears to be a happy out come for all parties this is not always the case.  What about the request for privacy that Donor’s sign up for when they choose to remain anonymous?  Is that even something that clinic should offer since there is no guarantee that the donor can’t be found?  What are the options for men who do become donors?  There are many questions that are raised in this article and very few answers, partly because technology is growing at such a fast rate and party because it appears in the article many clinics are ignoring this issue of privacy.  Let us know what you think about this issue.

Michelangelo Merisi da Caravaggio Baroque master’s death is surrounded in mystery, but that mystery may soon be solved thanks to DNA testing — as long as the right body can be found.

The caused of death for this famous painter in 1610 and the whereabouts of his corpse have always been unclear.  But a team of Italian anthropologists believe that what is left of Caravaggio’s body may be hidden among dozens of bodies buried in a crypt in Tuscany, thanks to recent historical clues.

The team using CAT scans and kits for carbon dating plan to study what they believe are the painter’s exhumed remains to discover how he died.  “If we are lucky enough to find Caravaggio’s skull, we will also be able to do a reconstruction of his face, just as we did in 2007 for Dante Alighieri,” Silvano Vinceti, head of the National Committee for Cultural Heritage, told Reuters.

The only images of the artist available until now have been self-portraits.  Scholars have put forward many theories about Caravaggio’s death. The most popular are that the painter was assassinated for religious reasons or collapsed with malaria on a deserted Tuscan beach.

However, in 2001 an Italian researcher claimed to have found the painter’s death certificate, which allegedly proved that he died in hospital.  “This historical document shows Caravaggio did not die alone on the beach but after three days in hospital, which means the body must have been buried in the San Sebastiano cemetery,” said Vinceti, referring to a Tuscan town near the city of Grosseto.

But in 1956, bodies buried at the tiny San Sebastiano graveyard were moved to a nearby town, Porto Ercole, and scholars hope that the remains of Caravaggio will be among them.

The team from the departments of Anthropology and Cultural Heritage Conservation at the universities of Ravenna and Bologna will have to examine the bones of between 30 and 40 people, selecting those that belong to young men who died at the beginning of the 17th century, to try and identify the painters remains.

“We will check the DNA extracted from the bones and teeth of possible matches against that of the painter’s male descendants,” Professor Giorgio Gruppioni, who will head the team, told Reuters.  “Sadly Caravaggio died childless,” said Gruppioni, “but his siblings had children whose relatives are still living in the northern Italian town that carries his name.”

Caravaggio, who pioneered the Baroque painting technique of contrasting light and dark known as chiaroscuro, is famed for his wild life. Legend has it that he was on his way to Rome to seek pardon for killing a man in a brawl when he died.

Based on the article by Ella Ide: DNA tests could solve mystery of Caravaggio’s death

Regardless of net worth, it is important for all individuals to have a basic estate plan in place.  This can be done with a family attorney or there are many online legal aid sites that can assist you in creating the proper document. Most often the biological children of deceased individuals have inheritance rights, DNA is being used more and more when estates are in question.

In some cases, previously unknown children can appear to claim part of the estate. Or, a greedy or unhappy family members may claim that a beneficiary is not a biological descendant of the deceased person. Depending on the timing of the claim, defending this claim could require exhumation or testing of autopsy specimens, neither of which is a pleasant process and which can be an expensive process.

DNA has emerged as a common tool in modern human identification and has magnificent and unparalleled applications in modern society. The best defense is a strong offense. In many cases proper legal registration of your DNA profile with your estate planner or attorney will help ensure legal and rightful administration of your estate, should the need arise.

The DNA relationship testing market has been growing steadily over the last twenty years.  Prices are decreasing and the easy of testing is increasing. Today, it is projected that the annual number of persons that will participate in some type of paternity or extended relationship test will exceed 1 million. In sharp contrast, it is estimated that less than 200,000 persons were tested in 1988. The increased demand for DNA testing has been fueled by greater public awareness of the power of DNA and the affordability and easy access to testing.

According to the National Center for Health Statistics, 2007 was a record year for births in the United States, there were 4,315,000 recorded births. Experts think that the increase has to do with a range of factors, including immigrants having more children, professional women delaying pregnancy until their 40s and a larger population of women in their 20s and 30s. These factors, coupled with the fact that 38.5% of all U.S. births in 2006 were from unwed mothers translates into an increasing need for education of families about the importance of knowing ones biological parents.

About DNA

DNA is the map of life and defines the essence of our individuality. Despite the size of the human genome, over 3.2 billion genetic markers, 99.9% of the DNA in all unrelated people in the world is identical. Thus, the vast differences observed in the human race are created from the minute differences in only 0.1% of DNA. An individual’s DNA can contain valuable information to help the lives of present and future generations. Locked in our DNA code are the secrets of our ancestry and medical conditions that scientists are only now beginning to understand.

PATERNITY

It is natural for families to want to know who the biological father of their baby is. Nationwide, approximately 30% of tested men are excluded as the biological father.  That means that 3 out of 10 test comes back as a negative result for paternity. A child has the right to the sense of identity that comes from knowing who both biological parents are. Knowledge of a child’s biological heritage is also very important in understanding future possible health risks. In addition, determining paternity gives a child legal right to receive financial support from the father and to inherit from the father.  This is the same if the mother is unknown.  In an era when adoption is a popular option it is important to remember that more and more people do not know either biological parent.

RELATIONSHIP TESTING

Relationship DNA testing can determine if a long lost brother or sister, grandparent, aunt or uncle is truly related to the family in question. DNA testing can also reveal if twins are identical or fraternal. Modern DNA testing can provide answers for a new world of relationships. Paternity testing can also be performed indirectly by testing relatives of an alleged father.

FORENSIC PATERNITY

If a person is deceased or unavailable for testing which is often the case in the question of estate settlement, forensic DNA testing can be an invaluable tool.  DNA can be found on evidence that is decades old. Common sources of forensic DNA evidence include: fingernail clippings, hair with roots or follicles, chewing gum, used beverage containers, eyeglasses, hats, lickable stamps or envelopes, teeth, post mortem tissue, a toothbrush, or cigarette butt.  The results that can be looked for from each item differs and it is best to contact your laboratory to see what items they recommend. For more infomation on DNA testing and how it can asssit you please contact DNA Identifiers.  Remeber regardless of you net worth it is important to have an estate plan in place and DNA can be an important part of your plan.

I just came accost this article on the DNA Read the World website.  It was really interesting.  DNA really is helping fill in missing pieces of information in our knowledge.

New Insight Into Horse Evolution Friday, December 11, 2009 18:35 IST

Scientists at the Australian Center for Ancient DNA (ACAD) based at the University of Adelaide are studying ancient DNA from extinct horse species have discovered new evidence on the evolution of Equidae over the past 55 million years.

Only the modern horse, zebras, wild asses and donkey survive today, but many other lineages have become extinct over the last 50,000 years.

“Our results change both the basic picture of recent equid evolution, and ideas about the number and nature of extinct species,” Cooper said.  The study used bones from caves to identify new horse species in Eurasia and South America, and reveal that the Cape zebra, an extinct giant species from South Africa, were simply large variants of the modern Plains zebra.

Study’s lead author, Dr Ludovic Orlando, from the University of Lyon, said that the research team discovered a new species of the distinct, small hippidion horse in South America.  “Previous fossil records suggested this group was part of an ancient lineage from North America but the DNA showed these unusual forms were part of the modern radiation of equid species,” Orlando said.

“This has serious implications for biodiversity and the future impacts of climate change,” Cooper added

This study does not appear to have immediate consequences it continues to add to our knowledge of the world on which we live.  The bones that were studied come from different time periods and many show that these animals became extinct more recently than previously though some as recently as 50,000 years ago.  This study also suggest that we have under-estimated how much a single species can vary over time and space, and mistakenly assumed more diversity among extinct species than were possible.  While most children study Charles Darwin’s theory of Evolution it is sometimes easy to forget that each species changes in very ways over time.

This article provides food for though regarding the environment around us and how it has been changing over time.

The study has been published in the Proceedings of the National Academy of Sciences.
National Academy of Sciences

The controversy surrounding Adolf Hitler’s skeletal remains is embarrassing for the Russian secret services. In 2000 the Russian secret service presented a skull fragment and a piece of jawbone that they claimed were the remains of the Adolf Hitler the Nazi leader. It was an attempt to quash the rumors that he had escaped Germany alive at the end of World War II.

But this October US researchers presented the results of DNA tests on the skull fragments.  The results conclude that the skull fragments definitely did not belong to Hitler because the fragments were from a female.  Scientists had already harbored doubts about the authenticity of the piece of bone because it was thinner than a male’s usually is.  Nick Bellantoni of the University of Connecticut said, “The bone seemed very thin — male bone tends to be more robust. It corresponds to a woman between the ages of 20 and 40.”  In addition the position of the exit wound at the back of the skull also made scientists suspicious because eyewitnesses said Hitler had committed suicide by firing into his right temple.

Russia’s intelligence service, has rejected these doubts. Vasily Khristoforov, the director of the FSB archives (the FSB is the successor to the KGB), told the newspaper Izvestiya that the bones are definitely Hitler’s. “These researchers never got in contact with us,” Khristoforov said, adding, “with what could they have compared the DNA? Moscow is the only place with the remains of Hitler”

Bellantoni said he was allowed to work on the skull for an hour. When he flew home from Moscow he had two samples in his luggage: a sample from the skull fragment and one sample of blood from the sofa on which Hitler is said to have shot himself.

Bellantoni was able to compare the bloodstains on the blood-stained fabric with photos the Soviets took after they seized Hitler’s bunker in Berlin. The stains had matched those in the photos. The research showed that the sofa blood DNA did not match the skull DNA. The sofa blood was male and the skull belonged to a woman, claims Bellantoni.

Khristoforov insists that Soviet leader Joseph Stalin had ordered an investigation of the bone pieces because he was not convinced Hitler was dead. The comparison of the jaw bones with X-ray photos of Hitler made in 1944 had satisfied Stalin that Hitler was dead.

Khristoforov said that the corpses of Hitler and Eva Braun, Joseph Goebbels and his wife and their six children had been destroyed on April 4, 1970. “The order came from KGB chief Yuri Andropov, the later state and party leader.”  The remains of Hitler and Eva Braun had been stored in the eastern German city of Magdeburg but on the orders of Andropov they were incinerated and the ash was scattered in the river. “That was probably the right solution. Otherwise the burial site would have become a pilgrimage site for fascists who exist everywhere.”

Even within Russian officials don’t all agree on whether the bones are really Hitler’s. After the US research was revealed in October, the vice president of the Russian state archive, Vladimir Kozlov, said: “No one claimed that was Hitler’s skull.

ABC News

In an article published May 19th, 2009 Scientists released data that shows that this fossil could be, “the first link to all humans … truly a fossil that links world heritage,” said Norwegian paleontologist Jørn Hurum of the University of Oslo Natural History Museum.

Meet “Ida,” the small “missing link” found in Germany.  The 47-million-year- old fossil suggests that Ida is a critical missing-link species in primate evolution.  This fossil is thought to bridge the evolutionary split between higher primates such as monkeys, apes, and humans and their most distant relatives such as lemurs.

Ida, properly known as Darwinius masillae has lemur-like skeleton features and primate-like aspects such as grasping hands, opposable thumbs, nails instead of claws.

At least one aspect of Ida is unquestionably unique: her incredible preservation, unheard of in specimens from the Eocene era, when early primates underwent a period of rapid evolution.  “From this time period there are very few fossils, and they tend to be an isolated tooth here or maybe a tailbone there,” said Brian Richmond, a biological anthropologist at George Washington University in Washington, D.C., who was not involved in the study with Jørn Hurum

For Jørn Hurum full publications see:

Jørn Hurum Full Publication

Just published in April in the Science Express is an amazing article on Ancestry testing. The international research team, led by Sarah Tishkoff, a geneticist at the University of Maryland and the University of Pennsylvania, studied genetic variation among 121 African populations, four African American populations, and 60 non-African populations by collecting DNA from many volunteers and comparing the sequences at various genetic markers around the genome.  This research has lead to some fascinating conclusions.

Sarah Tishkoff and her team of international researchers collected DNA samples from all areas of Africa over the course of many years, creating a large data base of genetic markers.  Looking at this large and varied data base has lead to a new understanding of African Ancestry.  The result of this study shows shared ancestry among geographically diverse hunter-gatherer populations, including pygmies and click-speaking San as well ask click-speaking groups in East Africa.  This shows a wide ranging population migration accost the African Content.  This study shows that the African American population’s ancestry is predominantly from the Niger-Kordofanian population of West Africa (71%) as well as from European (13%) and other African (about 8%) populations.

While this research alone is completely fascinating, the possibilities for further research is wide open.  It has been suggested by scientists that people originated in the African region. Therefore, this study is a gateway to perform comparisons of other races genome to this data base to determine the validity of that suggestion.

For further information please see:

http://www.aaas.org/news/releases/2009/0430sp_africa.shtml

56 Years ago, two Oregon women, Kay Rene (Reed) Qualls and DeeAnn (Angell) Shafer, were born at Heppner’s Pioneer Memorial Hospital. While both girls were being bathed they were accidentally switched and returned to the wrong mothers.  The mistake was not discovered until the summer of 2008, when a former neighbor of the Angell family, and a friend of the Reed family, contacted Kay’s older brother, Bobby.

The 86 year old woman told Bobby that she “needed to get something offer her chest”.  She claimed Marjorie Angell, DeeAnn’s mom, had insisted she’d come home with the wrong baby – nurses had taken her baby and the Reed baby, both bald and weighing about 6 pounds, and bathed them together, when they returned with the babies, they’d been switched.

Both families compared stories and learned that rumors of the switch had been talked about for years.  They decided to preform a sibling-ship test to determine the truth as both sets of parents were deceased.  DeeAnn and Kay tested with two of Kay’s purported siblings and discovered that they had, in fact, been switched at birth!

It should comfort some to know that, while mistakes can happen, it is highly unlikely that this type of oversight could be made at a hospital in this day and age, as there are many precautions taken. Furthermore, should a mother have concerns, she is now able to do purchase and perform a maternity DNA test.

For the Full story:

http://eastoregonian.com/main.asp?SectionID=13&SubSectionID=48&ArticleID=92415

Julia Pastrana, the most famous “Bearded Lady”, was a Mexican-born woman who exhibited herself in 19th-century Europe as part of a traveling circus, dancing and singing in clothes that showed off her hairy visage and limbs. At the time, she was considered a freak and no one knew why she was cursed with this hairy condition. It all comes down to DNA. As it turns out, Julia had Hypertrichosis Terminalis, or CGHT.

CGHT is a condition where excessive hair grows over and above the normal amount for the age, sex and race of the individual. It can develop all over the body or can be isolated to small patches. CGHT is an extremely rare but highly inheritable disorder.

Geneticist, Xue Zhang, of the Peking Union Medical College in Beijing, has set out to discover a cure, or at least a cause for this disease and has scoured China for cases he can research. His team found three affected families, including 16 afflicted members, who were willing to participate in a study.

Xue Zhang, and his research team, first conducted a genome-wide linkage scan in a large four-generation family which showed a genetic locus (location) for CGHT. Afterward, they conduced further studies on the genetic markers from the same chromosome region. (This confirmed genetic mapping previously performed.) They found that in every family a microdeletion (the loss of a tiny piece of a chromosome), within the critical region of the locus, was present in all affected individuals but was not present in unaffected family members. This research successfully and conclusively identifies CGHT as a genomic disorder. Now lets hope he can find a cure!

Click here to read the full article