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Breakthrough In Human Genetics

Many readers have submitted this story about a breakthrough in our understanding of human DNA: in particular, how much variation can exist between peoples' genes and how genes are involved with certain diseases. "One person's DNA code can be as much as 10 percent different from another's, researchers said on Wednesday in a finding that questions the idea that everyone on Earth is 99.9 percent identical genetically. They said their new version of the human genetic map, or 'book of life,' fills in many missing pages and chapters to explain how genes are involved in common diseases. The Human Genome Project mapped the billions of letters that make up the human genetic code. Scientists later refined the map by looking for single variations called SNPs or single nucleotide polymorphisms. The CNV map gives researchers a different way to look for genes linked to diseases by identifying gains, losses, and alterations in the genome."

11 of 240 comments (clear)

  1. Re:Spelling on Slashdot by gringer · · Score: 3, Insightful

    My guess is that they're referring to human specific variation, i.e. 10% of the DNA that varies within human populations, rather than variation in all DNA.

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  2. How does this impact genetic therapies? by Salvance · · Score: 3, Insightful

    If there is so much variation between humans, how does this impact future genetic therapies? Wouldn't we need to map each person's genome, then study the impact of disease on each of the genes, to understand what gene therapies would work best for an individual? This article seems to suggest that the everyday "We've found the gene that causes " claims are only true for a subset of the population.

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  3. Re:Good Science meet bad math by Bamafan77 · · Score: 3, Insightful
    Looking at the writeup from Nature. They clearly state that these results point to maybe a 0.5% difference among individuals, or 99.5% identical. That's 20X less variation than this crap article would have you believe.
    Well, to be fair, the Reuters article states that "One person's DNA code can be as much as 10 percent different from another's", not IS 10% different. That seems to cast the statement in the light of "theorhetical upper limit", rather than "absolute truth".
  4. Re:Actually by nacturation · · Score: 5, Insightful

    So how is parent Offtopic?

    Because it's a creationist site whose tagline is "Upholding the authority of the bible from the very first verse." While the source generally shouldn't be taken into consideration when considering the argument, in this case it's similar to asking the KKK for informed research on black people.

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  5. Re:Actually by timeOday · · Score: 4, Insightful
    So 95%, 98.6%, or 99.8% - all are correct answers in the correct context.
    ...and all irrelevant anyways, as to the issue of how different the phenotypes of chimps and humans are. Heck, the human brain is 70% water, does that mean the head is "pretty much" like a 1/3 empty coffee pot? With changes to far less than 0.2% of his DNA, Einstein could have gone from genius to a miscarriage that his mother never even noticed. It's great for medical experimentation that chimps are so similar to people, but gene sequencing doesn't suddenly make us any more or less similar than we were before.
  6. Re:Actually by mrRay720 · · Score: 5, Insightful

    Very true.

    Whenever I hear people talk about how we're "99% like a chimp", "45% like a fern", "76% like a catfish", etc. I just point out that we are not DNA. DNA is just the intruction manual on how to make us.

    A more accurate analogy would be that the user manuals for a chimp and a human are 99% similar. Considering that the first 950,000 of 1,000,000 pages are about basic body structure, chemicals, etc, that's hardly surprising.

  7. Re:Natural Selection no longer applies to humans by kripkenstein · · Score: 4, Insightful

    Humans have escaped the phenomenon of Natural Selection, for the most part.
    All of us who wear glasses? We should have been culled. [etc.]


    I disagree. Yes, the simple "the organism dies because of some trait, so there are less offspring with that trait in the next generation" is somewhat true today, as you say. But natural selection extends to much more than that.

    For starters, sexual selection. Nowadays people have LOTS of choice in selecting a partner; it is very common to have many partners and even children with multiple partners. In addition, the number of children that people have is very variable - more and more elect to have none, while some people have quite a lot. All of this allows a few 'sexually preferred' individuals to contribute to the next generation's gene pool in a significant way, first in that certain individuals have more opportunity to have children - say, because of attractiveness - and second, that the number of kids is a personal choice that varies greatly.

    Now, you talk about wearing glasses, diabetes, etc. - these are 'objective' issues that should be selected against, supposedly: "in the wild, such people would never survive". But the fact that we live in a different environment doesn't mean that OTHER selection pressures, perhaps just as strong, don't exist. They are just different.

  8. Re:Natural Selection no longer applies to humans by Burnhard · · Score: 5, Insightful

    Humans have escaped the phenomenon of Natural Selection, for the most part. All of us who wear glasses? We should have been culled. All these people developing diabetes from eating too much sugar? Selected against. Asthma? You get the picture. Running with the idea that there is a higher power that created the world, I would say that Natural Selection is the method that higher power uses to figure out what works. But now with health care and a strong sense of altruism, errors in the genetic code are propagating throughout our species and wrecking havoc. In other words, we're playing god by saving lives that should have been selected against and allowing them to pass on their flawed genes.Sorry if my first post here is highly naïve, but you are making the assumption that caring for the sick or less fortunate is not itself a trait that has been selected for in previous generations. You mention a strong sense of altruism. This trait remains in the population because it is selected for, especially as Human (and primate) populations survive as groups, not as individuals.

  9. Re:Natural Selection no longer applies to humans by Jekler · · Score: 4, Insightful

    Humans have escaped the phenomenon of Natural Selection, for the most part. All of us who wear glasses? We should have been culled. All these people developing diabetes from eating too much sugar? Selected against. Asthma? You get the picture.

    Your assertion presupposes that those genetic traits are actually inferior and not suitable for continued survival, which is unknowable until evolution has a chance to ferret them out. Poor eyesight could very well be an evolutionary advantage. Many predators have notoriously poor eyesight (for example monitor lizards and cats), but can hear/smell/taste far better which makes them great hunters and excellent candidates for evolutionary survival.

    Diabetes? Type 2 diabetes can often go untreated (medically) managed solely by exercise and diet. The abundance of society's processed foods which contain obscene amounts of sugar is the biggest enemy of type 2. So you have a genetic class of people that need to exercise more and eat healthier.

    I'm not saying that every disease is actually an advantage, but it's presumptuous of us to believe, from our limited temporal footprint in the history of evolution, that we can tell the difference between an evolutionary advantage and a weakness that should be culled. It frequently takes many thousands of years for natural selection to determine a victor in terms of evolution, and often times species we would consider inferior have prevailed over seemingly superior creatures.

    At this point in time, things we might consciously decide to cull from the gene pool with genetic modification may actually be against our own interests. One person says "We fixed his eyes", another person says "But you broke his ears".

  10. Re:Natural Selection no longer applies to humans by Almost-Retired · · Score: 5, Insightful

    And now your kid is born with a gene that means they're 80% likely to die from some horrible disease by the age of 30. If I were that kid, I would be pissed at my parents for not choosing the screening option.

    Sorry, I can't agree with that last statement, having been a step-parent to 2 of "Jerry's" kids for 17 years. Regardless of the physical problems and the fact that one has already died at age 34 of MMD, they were, and are glad to be alive. So don't try to put words in a hypothetical childs mouth, thats not what comes out when they make their wishes known.

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  11. Race and genetics cont. by Dobeln · · Score: 4, Insightful

    "The only strange thing I see in your post is that people of mixed ancestors aren't cited. So I guess in your world people don't mix at all and can be precisely determined what they are."

    No, but it can be determined very accurately if people have recent (broadly speaking) ancestry in a particular part of the world.

    "Do you live in Nazi Germany, 1940?"

    Ah, the Hitler thing. How original.

    "If they do mix, how "the research" identifies them?"

    Using non-binary designations, probably. It's like colors - there is no discrete line where one color becomes another, yet people rarely go around proclaiming that "colors do not exist". Racial designations is a matter of utility and economy of information.

    When it comes to "tagging" however, the old racial classificiations remain remarkably efficient - I.e. if you compare how people self-identify with their genetic makeup, a computer will usually sort them into their own self-classified category with a high degree of precision. Certain fashionable ethnic identifiers are far less effective than racial ones, however, I.e. "hispanic".

    "My guess is that a lot of people in here or in science have a bias towards a racially segregated society, where people don't mix, just like the US and european countries."

    Ah yes, scientists are all racists - that must be it. Interestingly, this kind of exchange is rather typical, I.e:

    Scientists: "We have lots of new cool genetic data!"

    Lewontinites: "Hitler! Racism! Hitler! Racism!"

    etc. etc.