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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. Good Science meet bad math by DrKyle · · Score: 5, Informative

    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. The actual research deals with CNV's = copy number variants. So for a given stretch of DNA, different people in a population might have that region duplicated or triplicated which does not really allow them to make anything different, but it might alter the levels of expression of those genes. As this DNA is found in multiple copies it had largely been believed to have a low number of genes, as is the case of most highly repeated DNA, but the researchers have evidence that these repeated domains do contain a large number of unique genes. In a short summary/analogy:
    Some people are 8 feet tall.
    Some people are 4 feet tall.
    Therefore, people vary in height by 200%.

    It's obvious to see the failed logic in that case, that's the same thing here, just because 10% might potentially be variable, that doesn't mean any single person even exists at each extreme.

  2. Re:Gene Expression? WTF? by fleshball · · Score: 2, Informative

    Dude, I have no idea what you are bitching about. 1. Gene expression is one of the most active areas of research, pharmacagenomics is actively being researched. Have you even heard of Gleevec? Cures people with a specific mutation? 2. It is WAY easier/cheaper/more standard to measure gene expression than to sequence them. 3. How tensegrity plays into signal transduction / gene expression is still unknown. 4. The ECM is an active area of research and drug targets for cancerand clotting. ....And if you say tenesgrity, or porosity again, I shall be forced to apply sufficent pressure to your crainial area as to force it to rupture. Soft matter people..... just want to bitch.

  3. Re:Actually by Anonymous Coward · · Score: 2, Informative

    Wow. That link took an interesting scientific report and then added a stupendous amount of stupidity. Here's the original source: http://www.pnas.org/cgi/content/abstract/172510699 v1
    Here's why scientists believe two ape chromosome pairs fused into one human chromosome pair (which your link claims is ridiculous without any explanation): http://www.gate.net/~rwms/hum_ape_chrom.html

    "The common ancestry scenario presents two predictions. Since the chromosomes were apparently joined end to end, and the ends of chromosomes (called the telomere ) have a distinctive structure from the rest of the chromosome, there may be evidence of this structure in the middle of human chromosome 2 where the fusion apparently occurred. Also, since both of the chromosomes that hypothetically were fused had a centromere (the distinctive central part of the chromosome), we should see some evidence of two centromeres."

    Read the rest of the document to see how these two predictions made by the theory of common ancestry turned out to be correct.

  4. Re:Actually by John+Newman · · Score: 3, Informative

    It depends on what, exactly, you are comparing. If you pick out a human gene and its chimp counterpart, and line up the sequenes, you find they are about 99.8% identical at the nucleotide level (and often 100% identical when you look at the encoded amino acids). These regions are presumably under selective pressure. If you do the same for corresponding non-gene sequences, ones which are not under selective pressure, you find they are 98.6% identical. However, now that the two genomes are essentially complete, we know that there are some large-scale duplication and deletion events, as well as variations in mobile elements, that make the overall identity between the two genomes somewhat less than the 98-99% identity between homolgous sequenes. So 95%, 98.6%, or 99.8% - all are correct answers in the correct context.

    (IIABioinformaticist)

  5. Re:chimpanzees=98% human by cheesygrapes · · Score: 2, Informative

    Okay let's think about this logically: If 99% of human DNA is the same then that means any two humans are going to have at least 99% in common (because that is the 99% that is the same in all humans) chimps have 98% which doesn't mean that there are two people such that one is equally different than the person so yes, if you throw logic to the wind and pull stuff out of your ass(pretty common on slashdot it seems), you can make crazy inferences

  6. Re:Actually by superyooser · · Score: 3, Informative
    Another article covering this discovery puts the difference at 96%.

    Another implication of the finding is that we are more different to our closest living relative, the chimpanzee, than previously assumed from earlier studies. Instead of being 99 per cent similar, we are more likely to be about 96 per cent similar.
  7. Better Article by BrickM · · Score: 4, Informative

    http://news.independent.co.uk/world/science_techno logy/article2007490.ece

    This piece gets a few of the key facts correct where reuters went wrong, such as the already-mentioned "10% vs 10x" difference between individuals. It's a great read!

  8. Re:God vs Man by CmdrGravy · · Score: 2, Informative

    "perhaps one day we can find new evidence that will reconcile both theories"

    In fact we already have, it's been discovered that the bible is just some book written around 1700 years ago and has absolutely nothing to say about the origin of life, or any other scientific matters. As such it contains no theories and you can now discard it as anything but a fanciful fairytale.

  9. Re:Spelling on Slashdot by gringer · · Score: 2, Informative

    Close. I'm suggesting that perhaps the DNA that varies between two people is 10% of the DNA that varies in the human population.

    --
    Ask me about repetitive DNA
  10. Bible is not 1700 years old, per se by pbhj · · Score: 2, Informative

    OK. If you take that the Bible is a compendium, or codex, of books then the Bible as we know it is about 1800 years old. However some of the books, I only know about Isaiah were written substantially before Christs life. Isaiah is believed by Christians / Jews to contain many prophecies about Jesus / The Messiah and was written IIRC about 500 years BC.

    Informative?

    Cheers.

    PS: http://en.wikipedia.org/wiki/Dating_the_Bible gives an estimate of 1500 years BC for the Pentateuch (first 5 books of Old Testament).

  11. Re:more examples of fuzzy math by varghan · · Score: 2, Informative

    I object to the statement1 million monkeys randomly typing typewriters = 1 shakespeare manuscript createdMy keyboard has 103 keys. Placing a 1e6 monkeys behind 1e6 of these computer would generate a 1/103 = 0.009 chance for hitting the exact right key. The chance of generating for example Titus Andronicus (140.187 characters, including spaces) is therefore (1/103)^140187. Nearly infinite I would say. Even generating Sonnet XVIII, Shall I compare thee to a summer's day (614 characters including spaces) would need 103^614 monkeys, again infinite. One million monkeys, using 1e6 computers with my keyboard can only generate only a sequence of 3 required characters. The main message is thus: 1 million is not nearly infinite.