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Microbiology/Genetics


12 % of the DNA Differs Amongst Human Races and Populations

Till now, humans of different races were thought almost identical

By Stefan Anitei, Science Editor

23rd of November 2006, 11:07 GMT

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The Human Genome Project found all humans to have a 99.9 % similar genetic content and identity, but this is challenged by a new more detailed research suggesting a higher genetic diversity, with further medical and evolutionary implications.

Previous studies focused on analyzing polymorphism (variation) in DNA nucleotidic bases. But the new approach tackled deletions or duplications of code among relatively long sequences of individual DNA and then compared the so-called copy number variations (CNVs) across individuals from different human breeds. This method uncovered a complex, higher-order variation in the code and better explains why some populations or races are vulnerable to certain diseases and respond well to specific drugs, while counterparts
swiftly fall sick or never respond to treatment.

Two technical breakthroughs, a faster, accurate sequencing of DNA and a powerful software programme to spot the CNVs allowed the new approach. 1,447 CNVs were located in roughly 2,900 genes, which means around 12 % of the human DNA. "Each one of us has a unique pattern of gains and losses of complete sections of DNA," said Matthew Hurles from Britain's Wellcome Trust Sanger Institute. "One of the real surprises of these results was just how much of our DNA varies in copy number. We estimate this to be at least 12 % of the genome."

"The copy number variation that researchers had seen before was simply the tip of the iceberg, while the bulk lay submerged, undetected. We now appreciate the immense contribution of this phenomenon to genetic differences between individuals."

Some missing or duplicated DNA fragments are very large, thus CNVs might have a big impact on gene expression. About 16 % of genes related to disease have been found to possess CNVs, like those involved in the rare DiGeorge, Williams-Beuren and Prader-Willi syndromes or more common schizophrenia, cataracts, spinal muscular atrophy and atherosclerosis. But kidney disease, Parkinson's, Alzheimer's and vulnerability to malaria and the human immunodeficiency virus (HIV), which recent research has blamed on single-letter variations in the gene code, are also suspected for CNVs. "The stage is set for global studies to explore anew... the clinical significance of human variation," said Huntington Willard at Duke University in North Carolina.

The new data also shows that our species is so recent that the vast majority of CNVs, around 89 %, was found to be shared among the 269 people belonging to Mongoloid Race (Japanese and Chinese), African Negroid (Yoruba Nigerians) and Caucasoid (of Northern and Western European ancestry). But there are also widespread specific differences in CNVs according to the race and even inside the same race according to population (geographical origin). This means that over 200,000 years or so, natural selection favored subtle variants allowing different humans populations to adapt to their different environments, with specific climate, pathogens, and food resources.
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Comment #1 by: gab1 on 24 Nov 2006, 09:28 GMT reply to this comment

"But kidney disease, Parkinson's, Alzheimer's and vulnerability to malaria and the human immunodeficiency virus (HIV), which recent research has blamed on single-letter variations in the gene code, are also suspected for CNVs."

ok... so out of 3,200,000,000 letters in the DNA code you just misplace/mutate ONE SINGLE-LETTER out of its right place and you get something as bad as HIV&all the other serious diseases???
seems that 99.(9)% of the mutations damages°enerates the DNA code, they're decreasing the amount of useful/correct genetic information throughout the process of natural selection/adaptation... so the facts are that all the living things are INVOLVING and NOT evolving...
a specie highly adapted to a specific enviroment has lost genetic information and can't go back to it's original vast genetic state, because of that genetic information lost during selection.
so natural selection just SELECTS from the existing gene pool, it doesn't CREATE any new useful genetic information as evolution would require in order to be true

http://www.answersingenesis.org/home/area/faq/mutations.asp

Comment #1.1 by: matt on 11 Feb 2009, 05:53 GMT

This person has no idea how molecular biology functions. A single nucleotide can copy incorrectly and cause a certain condition, such as in sickle cell anemia, however, it could also potentially mutate another nucleotide that would have some unknown, perhaps beneficial mutation. In addition, just because a gene MAY copy incorrectly during DNA replication, does not mean that it will. It does not always produce negative effects. Although sickle cell anemia may seem bad, in the context of evolution it makes sense. The populations most afflicted by sickle cell anemia have their genetic roots in areas where malaria is endemic. The misplaced nucleotide in this case, effects the hemoglobin gene. This mutation causes hemoglobin to be produced that misshapes the red blood cells in those afflicted into a sickle shape. This causes them to potentially form blocks and clots in the body. However, it also prevents the malaria parasite from living a part of its life cycle, which normally takes place on normal red blood cells in humans. Although the condition causes pain and sometimes death, it is not as bad as having malaria, hence those who possessed the mutant gene were more likely to pass it on, as those without it were more likely to die of malaria sooner and more frequently than those who had sickle cell anemia. Hence its presence today in those populations.So to summarize my example there, sickle cell might be seen to be a "bad" thing, but it simply was a random mutation that provided a benefit to the population that carried it. Genetics and molecular biology as we understand it today would not be possible without evolution. If you take insulin for diabetes, or any of the new slew of cancer drugs, you have scientists and their great understanding of biology, biochemistry, and especially evolution to thank for that.


Comment #2 by: Sheldon on 13 Mar 2009, 07:04 GMT reply to this comment

What if the human race is actually multiple races seeded here on planet earth; a product of DNA experiments preformed by extratrestrial beings? Could that explain some the the variances in DNA that we see between the different races and possibly lead to the question: where are the missing strands of DNA?

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