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Genes, Medicine, And The New Race Debate

机译:基因,医学和新种族辩论

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Poring over the raw genetic data, Mark Daly noticed a startling pattern. An expert in statistical genetics and a fellow at MIT's Whitehead Institute for Biomedical Research, Daly was scouring a region of human chromosome 5, a place that colleagues strongly suspected contained a gene that puts people at risk for a devastating digestive condition called Crohn's disease. The sequence spelled out in the DNA letters A, T, G, and C was almost identical in all the samples Daly examined―each from a different person. As Daly expected, sprinkled every thousand letters or so were spots where a single letter tended to vary from one person to another. Then came the surprise. Many of these single-letter variations seemed to occur together, as if they were tightly linked across long stretches of the DNA. In other words, whenever Daly looked at an individual copy of one of the sections of DNA and found an A at one of these positions, he would find a G at the next one, about a thousand letters away, a C in a third position still further down the line, and so on. After roughly tens of thousands of letters, another pattern began; the long stretches of linked variants, it seemed, divided the chromosome into neatly defined blocks. What's more, for any given stretch of the chromosome, there were only four or five versions of these blocks that kept showing up in the different individuals Daly studied. Daly realized he was staring at evidence of an underlying structure to the human genome.
机译:浏览原始的遗传数据,马克·戴利(Mark Daly)注意到了一个惊人的模式。达利(Daly)是统计遗传学专家,也是麻省理工大学怀特黑德生物医学研究所的研究员,他正在搜寻人类5号染色体的一个区域,同事强烈怀疑这个区域含有一个基因,该基因使人们处于毁灭性消化道疾病的危险中,称为克罗恩病。在戴利检查的所有样本中,DNA字母A,T,G和C拼出的序列几乎完全相同,每个样本均来自不同的人。正如戴利(Daly)所预料的那样,每千个字母上都散布着一个字母往往在一个人与另一个人之间变化的斑点。然后是惊喜。这些单字母变体中的许多似乎都在一起出现,好像它们在DNA的长片段上紧密相连。换句话说,只要Daly查看DNA片段之一的单个副本并在其中一个位置找到A,他就会在大约一千个字母之外的下一个位置找到G,在第三位置找到C。再往下走,依此类推。大约成千上万个字母后,出现了另一种模式。似乎是一长串相连的变异体,将染色体分成了整齐的块。更重要的是,对于任何给定的染色体延伸,这些区段的只有四个或五个版本一直出现在Daly研究的不同个体中。戴利意识到他正在盯着人类基因组潜在结构的证据。

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