GENETICS - Contradicting earlier findings--there's a HUGE variation in human genetics

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[Firemouse--this should make you feel a little better since some of the findings in the supervolcano thread are bsed on a uniform genetic blueprint.]

Thursday July 12 5:29 PM ET

Huge Genetic Variation Found in Human Beings

By Will Dunham

WASHINGTON (Reuters) - The notion of a uniform genetic blueprint for human beings took a tumble on Thursday, as the most detailed examination yet of variations in the genetic makeup of people detected unexpectedly large individual differences.

Researchers with Genaissance Pharmaceuticals Inc. of New Haven, Connecticut, found astonishing variance at the genetic level in 82 unrelated people primarily from four racial backgrounds -- white, black, Asian and Hispanic.

In studying 313 genes -- out of the 30,000 identified by human genome scientists -- the Genaissance researchers found that for each gene, there actually are on average 14 versions that can be inherited by a given person from parents.

The researchers said their findings should cause scientists to rethink the definition of the human genome, or genetic map.

``We've looked at the largest number of individuals and diverse populations that's ever been done,'' said Gerald Vovis, Genaissance chief technology officer and senior vice president and an author of the study appearing in the journal Science.

``The most surprising finding that came out of here was the fact that we found an enormous amount of variation within these genes which had not been known before,'' Vovis said in an interview.

Vovis said the genetic differences may help explain why people respond differently to various medications. Whether a patient possesses a certain version of a given gene could determine whether a particular drug would be beneficial, do nothing or even harm the patient, the researchers said.

The hope is to be able to harness the knowledge of an individual's unique genetic makeup in order to tailor disease treatments to that specific person, Vovis added.

PRIVACY CONCERNS

Vovis said he foresaw a day when patients would provide a blood sample to their doctor to allow for a genetic examination that could guide treatment decisions. He acknowledged some patients might fear this private genetic information could be misused or exploited.

``We have concerns about it,'' Vovis said. ``We are very well aware of the fact that in order for people to take benefit from this, they are going to have to feel that their genetic information is being treated in a confidential manner.''

Dr. Francis Collins, director of the National Human Genome Research Institute, part of the U.S. government's National Institutes of Health, told Reuters the study adds ``considerable optimism'' to using a gene-variation strategy to find hereditary contributions to diseases.

``We have been talking a lot about how similar all of our genomes are, that we're 99.9 percent the same. That might tend to create an impression that it's a very static situation. But that 0.1 percent is still an awful lot of nucleotides (genetic building blocks),'' Collins added.

The scientists who in February unveiled the sequencing of the entire human genome -- a human being's complete allotment of genes -- said it took 30,000 genes to make a person.

HALF MILLION GENE VARIATIONS

Genaissance researcher J. Claiborne Stephens, lead author of the new study, said if that is accurate then ``the functional complement of the human genome is going to be a repertoire of something like 400,000 to 500,000 gene versions.''

The researchers studied the genetic makeup of 21 whites, 20 blacks, 20 people of Asian descent, 18 Latinos and three American Indians. The groups proved to have a certain degree of genetic idiosyncrasies, likely because their ancestors had a common history in a geographical region over thousands of years, whether in Africa, Asia, Europe or the Americas.

The two groups that shared the highest number of rare genetic variants with one another were the blacks and Latinos. The Asians shared comparatively little with the other groups.

``What we didn't see was any variation that really defined what might be considered to be an ethnic group,'' Vovis said. ''What we did see, however, was that different versions of a gene may be present at higher frequencies in one group of a geographical origin over another.''

Vovis said Genaissance has conducted a clinical trial showing how genetic differences between people affect the effectiveness of a certain drug used to treat asthma, and launched another trial in April involving medication used to control high blood cholesterol levels.

-- Anonymous, July 13, 2001

Answers

The perhaps controversial cracks I just put up at Timebomb...:

I've long had a problem with the standard definition of "species". Simply put, it invariably doesn't work. What is really at issue is isolation of gene pools and protection of the resultant diversity. Many animals we would consider different species, because, well, it's just so obvious that they must be (like the canids and many waterfowl), in fact can interbreed quite successfully, they just don't usually want to. So, behaviorial and other cultural attributes usually ensure that the gene pools just keep on diverging.

I'm not saying that there is more than one species of human. Well, maybe there is if we ever come up with a more functional definition of "species". What I'm thinking is that the combination of a guy's general willingness to hump most anything it can given the opportunity and an increasingly global society is perhaps bringing these gene pools back together. (Guys, not meaning to slur you dear creatures, just pointing out the invariable result of testosterone poisoning. For many of you it is simply irresistible.)

-- Anonymous, July 13, 2001


Not that we don't hold still for it or anything...

-- Anonymous, July 13, 2001

What I'm thinking is that the combination of a guy's general willingness to hump most anything it can...

Dontcha just love how she goes from 'guy' to 'it' in one sentence?

-- Anonymous, July 14, 2001


Brooks is a card-carrying menber of CLATT... Cat-Loving Advocates of Testicle Terrorism...

Keep your eyes open, and your jewels covered....

-- Anonymous, July 14, 2001


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