tailieunhanh - Báo cáo y học: " What my genome told me - and what it didn’t"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Minireview cung cấp cho các bạn kiến thức về ngành y đề tài: What my genome told me - and what it didn’t | Comment What my genome told me - and what it didn t Gregory A Petsko Address Rosenstiel Basic Medical Sciences Research Center Brandeis University Waltham MA 02454-9110 USA. Email petsko@ Published 29 June 2009 Genome Biology 2009 10 108 doi gb-2009-10-6-108 The electronic version of this article is the complete one and can be found online at http 2009 10 6 108 2009 BioMed Central Ltd Well it turns out I m not descended from Genghis Khan. I m sure that s as surprising to you as it is to me. I mean according to what we hear from people who use genomics to track human migrations a huge percentage of the human race is actually descended from Genghis Khan. But not me. That s one of the things I learned when I submitted a sample of my DNA for genome-wide single nucleotide polymorphism SNP analysis by one of the companies that have sprung up to perform such tests for ordinary individuals for a fee. I was curious to see what sort of information they provide and wanted to know something about my own genomic makeup to be honest so I followed the directions of the company I had selected and spat into a plastic container until I produced the required volume of saliva mailed it in and awaited the results. Would I have an allele that doomed me to a rare genetic disorder as I got older Was I at much higher than normal risk for heart disease diabetes or any of the other thousand natural shocks that flesh is heir to Was I descended from Genghis Khan The company I sent my saliva sample to doesn t actually do any DNA sequencing or hybridization itself it contracts this out to a specialist laboratory. Once the lab received my sample DNA was extracted from cheek cells in the saliva and amplified by PCR to produce enough material for the genotyping step. Next the DNA was cut by restriction digestion into smaller more manageable pieces. These DNA pieces were then applied to a DNA chip which in this specific case is a small glass slide with millions