January 24, 2008

DNA typing and Jewish populations

Advanced hereditary examination, including Y-DNA and mtDNA haplotyping, of contemporary Jewish communities around the world, has helped to decide which of the communities are possible to have settled from the Israelites and which are not, as easily as to build the degrees of linkage between the groups.
Important studies archived here include the University College London survey of 2002, Ariella Oppenheim's survey of 2001, Ariella Oppenheim's survey of 2000, Michael Hammer's survey of 2000, and others. Key findings:
# The principal cultural factor of Ashkenazim (German and Eastern European Jews), Sephardim (Spanish and Portuguese Jews), Mizrakhim (Middle Eastern Jews), Juhurim (Mountain Jews of the Caucasus), Italqim (Italian Jews), and almost new contemporary Jewish populations of the reality is Israelite. The Israelite haplotypes slip into Y-DNA haplogroups J and E.
# Ashkenazim too settle, in a smaller manner, from European peoples such as Slavs and Khazars. The non-Israelite Y-DNA haplogroups include Q (typically Central Asian) and R1a1 (typically Eastern European).
# Dutch Jews from the Netherlands too settle from western Europeans.
# Sephardim too settle, in a smaller manner, from respective non-Israelite peoples.
# Georgian Jews (Gruzinim) are a mixture of Georgians and Israelites.
# Yemenite Jews (Temanim) are a mixture of Yemenite Arabs and Israelites.
# Moroccan Jews, Algerian Jews, and Tunisian Jews are mainly Israelites.
# Jews from the region of Libya are generally Berbers.
# Ethiopian Jews are nearly solely Ethiopian, with less or no Israelite descent.
# Arabs from Palestine are likely partially Israelite.

January 21, 2008

Genetic testing for Alzheimer - concerns over insurance

New genetic testing for adult-onset diseases raise concerns over potential adverse selection in the insurance markets.

To assess this concerns, a study followed 148 cognitively normal persons that participated in a randomized clinical trial of genetic testing for Alzheimer's disease. A year after the disclosure of risk assessment and Apolipoprotein E (APOE) genotype. While there were no significant differences in health, life, disability insurance or purchases, which tested positive were 5.76 times more likely to have altered their long-term care insurance than those who did not received the APOE genotype disclosure.

If genetic testing for Alzheimer's disease is the assessment of risks, which could trigger adverse selection in the long-term care insurance.

January 18, 2008

Genetics of eye color unveiled

It's been discovered that only a few "letters" of the six billion that make up the human genetic code are responsible for most of the variation in the color of human eyes.

The investigation, conducted by a team of scientists from Queensland, Australia, will be published in an upcoming issue of the American Journal of Human Genetics.

The findings are based on a genetic study of nearly 4000 people.
The differences in the color of the eyes are largely a "single nucleotide polymorphisms (SNPs - pronounced" snips "); variations in the sequence of letters that form a single strand of human DNA.

SNPs represent a change of just one letter in the genetic sequence. These changes, or mutations in our DNA may have important implications for the way the gene is expressed physically.

All SNPs are located near a gene called OCA2. This gene produces a protein that helps give hair, skin and the colour of his eyes. And OCA2 cause mutations in the most common type of albinism.

Brown and blue

The study, which focused on the twins, their brothers and their parents, it shows - conclusively - that there is a "gene" for the color of the eyes.
Everyone has two copies of a SNP. So there are a number of possible combinations, some of which are more strongly associated with, for example, blue eyes, with brown eyes.

In short, these combinations greatly influence the color of a person's eyes, but they are not the last word.

Dr. Richard Sturm and his colleagues found three HNS near the beginning of OCA2 gene that were associated with the color blue eyes.

"The SNPs that we have identified themselves are not functionally causing the change in eye color, but are linked very closely to something that is," Dr Sturm, of the University of Queensland, told BBC News.

"When OCA2 is eliminated, there is a loss of pigmentation. These SNP's position right at the beginning of the gene means that we are seeing a change in the regulation of the gene in people with color blue eyes."

Functional changes

So these SNPs, at the beginning of OCA2 probably regulate how much of the protein is produced by the pigmentation gene. People with brown eyes can have a lot of this protein, while people with blue eyes have less.

However, the only letter of the changes involved in the green eyes could produce functional changes in pigmentation of the protein.

The researchers found SNPs in another position in the region OCA2 - linked to the green eyes - which led to changes in the amino acids (the building blocks of protein).

"To use an analogy, one of the changes is like changing light and shuts down, while the other is how to change the bulb from brown to green," said Dr Sturm.

In total, the only letter of the changes identified in the study accounted for 74% of the total variation in the color of the eyes, researchers said.

January 13, 2008

DNA unveils African ancestry among British

Africans have lived in Britain at various times since the age of the Roman Empire. However, it is believed that no genetic trace has remained among modern inhabitants. A special kind of Y chromosome type, the deepest-rooting clade of the Y phylogeny is known as the haplogroup (hg) A has never been found among populations that are original from Western Europe, including Britain. This haplogroup is known to be African-specific. Last year, scientists from the Department of Genetics at the University of Leicester described the presence of an hgA1 chromosome in a British male who is clearly indigenous (original from) the British region of Yorkshire. Further comparisons of this Y-chromosome with several African individuals suggest a Western African origin.

The researchers investigated the area and found that of 18 men carrying the same rare east-Yorkshire surname, seven also carry hgA1 chromosomes. By analyzing the genealogy of these persons they concluded that their ancestors lived in Yorkshire in the late 18th century.

The genealogical investigations were corroborated by genetic testing using 77 Y-short tandem repeats (STRs) and is consistent with an ancestor from few generations earlier. This is the first time that scientists find genetic evidence of Africans among 'indigenous' British.

The authors of the study say that this results make clearer that migrations and evolution of current human populations is very complex. Also, they warned that these data show that inferring geographical conclusions from Y-chromosomal haplotypes a priori can be unreliable.
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January 9, 2008

DNA phylogeny solves case of deliberate infection with HIV-1

A gastroenterologist was found guilty of attempted second-degree murder after he injected his ex-girlfriend with blood or blood products obtained from HIV type 1 (HIV-1)-infected patients under his care. Phylogenetic analyses of sequences of HIV-1 were admitted and used as evidence in the case, which represents the first use of phylogenetic analysis in a criminal court case in the United States. Phylogenetic analyses of HIV-1 env reverse transcriptase and DNA sequences isolated from the victim, the sick, and a sample of the local population of HIV-1-positive individuals showed the victim's HIV-1 sequence both are more closely related and intertwined Within a lineage consisting of the patient's HIV-1 sequences.

That finding of paraphyly of the patient's sequence was consistent with the direction of transmission from patient to the victim. Analysis of the victim's sequences of the viral reverse transcriptase proved compatible with the genotypes known mutations that confer resistance to AZT, similar to those found in the genotype of the patient. Prior creation of the patient and the victim as a suspected transmission pair provided a clear phylogenetic hypothesis for testing. All phylogenetic models, and examined two genes strongly supports the close relationship between HIV-1, the sequences of the patient and the victim.

Resample blood of suspected transmission pair of sequencing and independent provided by the different laboratories a precaution against error in the laboratory.

January 6, 2008

Uses of mitochondrial DNA (mtDNA)

Mitochondrial DNA is a very useful tool in forensic science. It has been used to identify the human remains and the perpetrators of a crime. It was also used to determine ancestry.

In traditional DNA tests, the nuclear DNA is used. Nuclear DNA (nDNA) can be removed from all nucleated cells. However, there are cells that do not contain nuclear DNA. These cells are called non-nuclear DNA of cells. Where is the rest of DNA found? Contain the DNA of mitochondria. Mitochondria are tiny organelles that live in the cytoplasm of a cell. Their role in a cell is used to produce energy for the cell \ 's metabolic processes.

A minute amount of DNA can be found in the mitochondria. Each cell contains many mitochondria tiny organelles. Mitochondrial DNA (mtDNA) is important for several reasons:

mtDNA

* Passed from mother to offspring through the maternal line
* Found in places where nDNA can be found
* Very low mutation rates
* Is highly stable

Your mitochondrial DNA is unchanged compared to only your mother. She received hers from her mother, her mother and her mother, and so on.

During fertilization, the mother contributes to her egg zygote AND half of his DNA. The father, on the other hand, contributes only half his DNA via sperm. The sperm then degenerates after its genetic material into the nucleus of an egg. Therefore, all parts of the developing cell zygote are contributed by the mother, including mitochondria. As the zygote divides and multiplies, the mitochondria are reproduced and transmitted to the offspring of parents organelle organelle, the offspring of parents organelle organelle. This means that all cells in a body have mtDNA that are compatible with the mother.

Genetic Mutation of the mtDNA is thought to occur roughly once every 6000 years. This means that mtDNA is extremely stable unlike nDNA. It also means that you have essentially the same mtDNA as your mother, your maternal grandmother, and all your maternal ancestors from hundreds or even thousands of years ago. For this reason, you can accurately trace your heritage kindergarten through several generations.

Because of mtDNA great stability, forensic scientists can remove several times in the bones and teeth of ancient skeletons and thus be used to determine the lineage Mother of skeletal remains. Mitochondrial DNA can also be found in certain tissues, which normally nuclear DNA does not exist. For example, cell death debris can be found in human hair. However, the only thing that is living in the hair follicles of men, where there is an abundance of nDNA. Nuclear DNA can be extracted from here and used for profiling and DNA matching. Simply put, the hair that were withdrawn during a fight or a hangar with its follicle bulge joint can be a rich source of nDNA.

Consider what happens if CSI's finding that human hair was cut and there was no follicle bulb attached? These hairs can still provide clues.

As hair grows, the follicle bulge cells multiply, undergo a transformation and become an integral part of the growth of hair. Part of this change includes the loss of the nucleus of each cell. Therefore, this hair is absent from nDNA, and dead cells that are an integral part of the growth of hair may contain mtDNA. If so, mtDNA can be isolated and used to identify the person who owns the hair.

January 3, 2008

GMO and US crops

The Union of Concerned Scientists released a pilot study which has found innovative DNA genetically contaminating traditional seeds of three major US crops. Contamination seeds, if left unchecked, could disrupt agricultural trade, unfairly burden the organic industry, and allow hazardous materials into the food chain.

This study shatters the presumption that at least a portion of the seed supply for traditional varieties of crops for that - is truly free of genetically modified elements," said Dr. . Margaret Mellon, director of the Food and Environment Program at UCS and an author of the new study, Gone to Seed: Transgenic Contaminants in the supply of traditional seeds. "The supply of traditional seeds is a treasure that agriculture must be preserved. The government should immediately follow up this study to determine the extent of contamination and take the necessary steps to protect this treasure.

The pilot study of the UCS is the first to systematically examine whether genetic engineering (GE) crop varieties now widely adopted in the United States have contaminated the supply of seed crop varieties presumed not to contain elements of GE. The seeds tested in the pilot study were for traditional varieties of corn, soybean, canola, and who have no history of genetic engineering. The tests were conducted for UCS by two commercial laboratories employing sensitive techniques capable of detecting specific DNA sequences.

The degree of concern to attach to seed contamination depends on many factors, including the nature of the genes that are contaminating the seed supply and the levels at which they occur. Who is awaiting additional information and more comprehensive test recommended by UCS in its report. However, the study published today suggests that the contamination is pervasive, especially in a laboratory where canola found six of the six traditional varieties tested contaminated with GE elements.

Most of the specific DNA sequences of the test in the study are found in popular GE varieties currently on the American market. But there is no reason to believe that engineered DNA sequences detected in the study are the only ones moving into the traditional seed supply.

"Until we know otherwise, it is prudent to assume that engineered sequences originating in any crop, whether it was approved and planted commercially or just field tested, could contaminate seed supply, "said Dr. Jane Rissler, a plant pathologist At the UCS and the report's co-author. "Among the potential contaminants are genes from crops engineered to produce drugs, plastics, and vaccines."

Graves risks to human health could result if genes from the pharmaceutical industry and contaminate the seed crops for food crops at a significant level. "Because producers and processors would not be aware of the contamination, inadvertently, they sell them for food use, a former door to the food supply that must be closed," said Mellon.

The equipment needed to detect such genes in molecular tests are not publicly available, therefore, it was not possible for UCS to test the seeds for sequences of so-called "pharm crops." However, the report urges prompt action to protect seed production From these sources of contamination.

In addition, the seed contamination, it is more difficult for American exporters to assure Japan, South Korea, the European Union and other export customers that shipments grain and oilseed do not contain unapproved GE crop varieties and to provide products free of engineered sequences. Contamination seeds also an unfair burden on organic food production, increasingly important sector of American agriculture. Organic farmers depend on traditional varieties to meet organic standards and consumer demand. The contamination of traditional seeds hampers their ability to find the GE-free seed they need.

The UCS study is too small to provide a reliable estimate of the levels of contamination of the seed supply through. However, the data obtained in this study suggests a range of 0.05 to almost 1% in the seeds tested. Calculated as part of Gone to Seed illustrate that even a level as low as 0.1% could translate into hundreds of tons of corn and soybean seeds inadvertently contaminated planted on farms in the United States, or l 'equivalent of more than 55000 bags of 50 pounds of seed.

"We must confront the reality of seed contamination now," said Rissler. "Not only should we worry about genes approved varieties but we must be concerned about hundreds of other genes that have been field tested but whose identities are not known to the public, in many cases . Heedlessly allowing the contamination of the seed supply to continue May cause problems which can not be easily resolved."

While not completely reversible, with sufficient political will, it is possible to look forward to sources of seeds that are substantially free of genetic engineering sequences, "Mellon said. "The government must act now."

UCS recommends eight steps to address seed contamination, including one funded by the government, full-scale investigation into the extent and causes of the contamination of seeds. The United States Department of Agriculture should also establish a reservoir of seed for major food and feed crops.

The new report can be found here. Formed in 1969 at the Massachusetts Institute of Technology, UCS is a partnership nonprofit scientists and citizens combining rigorous scientific analysis, innovative policy development and effective citizen advocacy to achieve environmental solutions. UCS advocates evaluation of the risks and benefits and alternatives to the application of agricultural biotechnology.

More info in http://www.ucsusa.org/

January 2, 2008

DNA clues on the African origin of Chinese populations

Modern man, or Homo sapiens, might have migrated from Africa into China by way of Southeast Asia between 18000 and 60000 years, researchers say.

This latter finding, the search for Chinese scientists and their international colleagues concluded that modern humans might have moved from Africa to China to replace Mono erectus (archaic of walking upright human beings) , to become the ancestors of the country \ 'modern man.

The conclusion is based on the comparison and analysis of the Y chromosome using DNA samples of 88 existing populations in East Asia, Southeast Asia and Oceania , said Li Jin, one of the Chinese researchers of the study "Chinese Human Genome Diversity Project. \ "

Li Jin is a professor of both the National Human Genome Center in Shanghai and the Institute of Genetics, Fudan University.

Scientists have found that variations in the Y chromosome in northern China are derived from those in the south of China, the fact that a small number of settlers of African origin moved to the north of China because of the obstacle of the powerful Yangtze River. And Polynesians, who live in the islands of the Pacific Ocean, are found to have different Y chromosome in Taiwan, forcing scientists to reconsider the hypothsis that Polynesians are the descendants of the ancestors of Taiwanese aborigines.

In general, almost all Y-chromosome variations in East Asia and Oceania could be found among those in Southeast Asia, said Li Jin.

Therefore, the results also indicate that modern humans migrated from Africa to Southeast Asia almost 60000 years.

Subsequently, the migrants are believed to have headed for two directions: one moved north to the south of China before spreading in the country \ 's north across the river Yangtze, and the other went to Indonesia and finally reached the Oceania.

The Y-chromosome research is an important method for tracing the migration patterns of men and the results clearly show the relationships between groups of people in Southeast Asia and Asia and 'Oceania, according to another major Chinese researcher Jiayou Chu, a professor of the Chinese Academy of Medical Sciences.

The research result was published in today \ 's issuance of the Proceeding of National Academy of Sciences, an American journal.

The finding means that scientists have made progress in the pursuit of human origin, though the conclusion that human beings modern Chinese migrated from Africa remains controversial, "said Academician of the Academy Science Chinese Zhu Chen, who is also the director of Shanghai \ 'S National Human Genome Center.

In 1987, the United States \ 'scientists postponed a theory based on mitochondrial DNA evidence that all human beings from Africa and later migrated to other corners of the globe. Intentional in academia, few arguments were raised about the theory that all humanity palaeoanthropic originated in Africa. Meanwhile, scientists noted that the fossils of Peking Man who lived 500000 years ago and Yuanmao Man more than 1.7 million years old have been discovered in China, but both lack any direct link with hereditary Chinese modern man.

There is a disconnection or "faultage" in the fossil palaeoanthropic Chinese who lived some 60000 to 100000 years, researchers say.

Coinciding with the fossil record, Chinese scientists discovered last year that primitive elements of DNA found in modern Chinese are identical to those found in Africans.

The discovery has provided evidence of weight on the genetic basis of the theory that modern Chinese were not changed since the archaic-walking upright human beings in China, but from Africa.
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January 1, 2008

Egypt's mumy gets DNA testing

Month after Egypt boldly announced that archaeologists had identified a mummy of Queen's most powerful of its time, scientists in a museum-3500 years corpse to try to save the claim broadcast on television.

Progress has been slow. So far, the results indicate the linen-wrapped mummy is very likely, but not conclusive, the woman pharaoh Queen Hatshepsut, who ruled for 20 years in the 15th century BC

Launching his own ancient DNA laboratory is a big step forward for Egypt, which for decades has seen most foreigners to take credit for the great discoveries here.

It's time Egyptian scientists had assumed, "said Zahi Hawass, Egypt's antiquities chief who led the search to find Hatshepsut and build the lab. "Egyptology, for the last 200 years, it was directed by foreigners."

Hatshepsut But the discovery also highlights the struggle to preserve the recent spectacular discoveries in Egypt, including the discovery of ancient tombs and mummies, investigating how King Tut died, and even the discovery of the oasis of Siwa, possibly, the world's oldest human footprint.

So far, science shows the Discovery Channel's"Secrets of Egypt's Lost Queen" has not been published in a reputable peer-reviewed scientific journal _ the gold standard of scientific research worldwide.

And some scientists, even those working on the project, have raised concerns.

"I think people at the Discovery Channel went much too much like CSI, "says biological anthropologist Angelique Corthals, referring to the television "Crime Scene Investigation "series.

"They think you can collect evidence at 2 pm and 6 pm, you get results," said Corthals, a scholar at England's University of Manchester, which comes in Egypt helps establish the DNA lab.

In June, Egypt announced that Hatshepsut's mummy was found, and about a month later, the Discovery Channel aired a documentary presenting scientific breakthroughs _ including CT scans and analyses of DNA. The mummy is now exhibited in a display case in the Egyptian Museum's royal mummy room.

Hawass, other Egyptian officials and Discovery Channel all comply with their findings, although DNA testing is incomplete.

"Until now, there is an agreement and any discrepancies. The results are quite encouraging, "said Yehia Zakaria Gad, a molecular geneticist who heads the Laboratory of DNA-old at the Egyptian Museum.

Most of the evidence that led to Hawass said the mummy to be Hatshepsut comes not from DNA, but CT scans. These scans have shown that the tooth relic found in a box showing the Pharaoh's insignia matched a gap in the mummy's jaw.

Tomodensitogrammes also showed facial similarities between the mummy and already identified mummies of Hatshepsut's royal family, as well as evidence of a skin condition that the queen may have shared with some of them.

"The reason why we went to such a request has been strong because of the CT scan was inconclusive and that the missing tooth provided the missing clue. ... I think that the DNA tests indicate otherwise, "said Peter Lovering, the discovery senior executive programming.

Now, scientists at the Egyptian Museum lab are comparing Hatshepsut's DNA sequences previously identified the mummy of Hatshepsut's grandmother _ the first attempt in Egypt, with this scientific analysis to verify a mummy identity. DNA is the genetic code unique to a person and a key tool in solving crimes date back several decades, establishing paternity and finding cures for diseases.

Documentary discovery, scientists have shown that the extraction of DNA from mummies, said the DNA results were incomplete and not to say those results was revealed the mummy Hatshepsut . But

Corthals has raised concerns about the expectations placed on the new DNA laboratory.

She said that the team of Egyptian laboratory was under "a lot of pressure" to produce results. She said they had "very good preliminary results," but it will take another month to verify that these results were not a queue.

Egypt also lacks a second independent laboratory to examine the test. Before any DNA results can be published in a scientific journal, the Egyptian Museum laboratory must replicate its original _ which are not yet completed _ and then the samples must be sent to an independent laboratory to be replicated.

"The ancient world-DNA through a very rigorous criteria. ... One of the most important is the reproduction by an independent laboratory, "said Corthals. "If you get there, especially with something as famous as this mummy, no peer review journal will publish.

"And if you get it published in a newspaper of peer review, as a scientist, you haven't done anything," she said .

Hawass said he is trying to obtain a second DNA laboratory set up in Egypt. The first laboratory of $ 5 million, funded by the Discovery Channel, is the centerpiece of an ambitious plan to identify the mummies and reconsider the royal mummy collection.

The process is time-consuming, especially for a new lab with scientists who have little experience with DNA mummy. It takes three days just to extract DNA delicate, and scientists must spend at least three more days completed a test on one sample. Months are required to make a finding.

During a recent visit to the lab by a reporter from the Associated Press, Gad was not firm on how much time is needed to carry out the first tests on Hatshepsut, saying only that it was "almost."

Discovery Channel paid for the current lab in exchange for exclusive rights to film the search for the mummy Hatshepsut. Hawass said he other companies offering the same market: the rights to film an expedition highly coveted _ possibly finding King Tut's family _ in exchange for a second laboratory.

"That's how I use bring technology televisions here," he says during an interview in his office in Cairo. He added that he had snacks on offer, but not in detail.

Hawass has ambitious plans for DNA testing in Egypt, including an examination of all the royal mummies and the unidentified nearly two dozen preserved mummies in the Egyptian Museum. He believes that DNA tests show that some royal mummies are not exposed archaeologists who thought they were.

One example is the mummy of Thutmose I, Hatshepsut's father, found in the late 19th century, amid the ancient sites at Luxor. But further investigation discovered that the mummy was too young to be Thutmose I, who died in his 50s, said Hawass.

"I firmly believe that the Egyptian mummy project will be very important in revealing lots of secrets," he says.

But not everyone is convinced.

Mummy of an age, the process of mummification and the condition in which it was stored, all contribute to a high degree of contamination and the results which are not infallible, "said Salima Ikram, Professor of Egyptology at the American University in Cairo.