由中美英等國科研機(jī)構(gòu)發(fā)起的大型國際科研合作項(xiàng)目“千人基因組計(jì)劃”28日在英國《自然》雜志上,，以封面文章形式發(fā)布了迄今最詳盡的人類基因多態(tài)性圖譜,，同時(shí)也在美國《科學(xué)》雜志上報(bào)告了在基因研究技術(shù)手段上的收獲,，相關(guān)成果標(biāo)志著人類基因研究進(jìn)入了一個(gè)劃時(shí)代的新階段,。
“千人基因組計(jì)劃”由中國深圳華大基因研究院、美國國立人類基因組研究所,、英國桑格研究所等機(jī)構(gòu)于2008年啟動(dòng),，旨在繪制迄今最詳盡、最有醫(yī)學(xué)應(yīng)用價(jià)值的人類基因多態(tài)性圖譜?，F(xiàn)在報(bào)告的是該計(jì)劃第一階段的分析成果,。
“千人基因組計(jì)劃”共同主席、英國桑格研究所基因?qū)＜?、《自然》封面文章主要作者之一理查?middot;德賓在接受新華社記者采訪時(shí)說：“這一計(jì)劃現(xiàn)在取得了兩個(gè)重要成果,，第一是獲得了迄今最詳盡的人類基因多態(tài)性圖譜，第二是探索出了研究基因多態(tài)性的新技術(shù)手段,。”
基因多態(tài)性是指人與人之間的基因差異,。人的基因組總體上差不多,，但在有些位置上你我他都不一樣，存在各種基因變種,，它們最終導(dǎo)致了人與人之間的差異,。
德賓說，在第一個(gè)成果方面,，研究人員找出了1000多萬個(gè)大大小小的基因變種，其中約800萬個(gè)都是前所未知的,。對于人群攜帶率在1％以上的基因變種,，本次研究的覆蓋率達(dá)到95％以上，得出了迄今最詳盡的基因多態(tài)性圖譜,。這一成果在醫(yī)學(xué)等領(lǐng)域有很高的應(yīng)用價(jià)值,，比如通過參照圖譜，可以方便地找出致病的基因變種,。
在第二個(gè)成果方面,，研究人員驗(yàn)證了在大型基因研究中綜合使用多種基因測序手段的可行性。由于基因測序成本目前仍很高昂,，如果能在“精測”一些基因序列的同時(shí),，對另一些基因序列只需“粗測”就能保證最終結(jié)果的準(zhǔn)確性，將可以大幅降低基因測序研究的成本,?！犊茖W(xué)》雜志上的文章便側(cè)重描述了技術(shù)手段方面的進(jìn)展。
德賓告訴記者,，自十年前“人類基因組計(jì)劃”完成以來,，因?yàn)殡y以同時(shí)對許多人進(jìn)行基因測序，基因研究一直只在較小的層面上進(jìn)行,。本次研究不僅使大規(guī)模測序成為可能,，還繪制了一個(gè)詳盡的基因圖譜以供比對，這標(biāo)志著人類基因研究進(jìn)入了一個(gè)劃時(shí)代的新階段,。
他說,，本次報(bào)告還只是基于“千人基因組計(jì)劃”第一階段中搜集的數(shù)百人的基因數(shù)據(jù)，而該計(jì)劃的最終目標(biāo)是獲得歐,、亞,、美、非各洲不同人群中2500人的基因數(shù)據(jù),，預(yù)計(jì)在2012年發(fā)布的最終結(jié)果將可以覆蓋99％以上的基因變種,。
據(jù)報(bào)道，“千人基因組計(jì)劃”所獲數(shù)據(jù)存放在公共數(shù)據(jù)庫中,，公眾可免費(fèi)查詢,。（生物谷Bioon.com）
生物谷推薦英文摘要：
Nature doi:10.1038/nature09534
A map of human genome variation from population-scale sequencing
The 1000 Genomes Project Consortium
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present results of the pilot phase of the project, designed to develop and compare different strategies for genome-wide sequencing with high-throughput platforms. We undertook three projects: low-coverage whole-genome sequencing of 179 individuals from four populations; high-coverage sequencing of two mother–father–child trios; and exon-targeted sequencing of 697 individuals from seven populations. We describe the location, allele frequency and local haplotype structure of approximately 15 million single nucleotide polymorphisms, 1 million short insertions and deletions, and 20,000 structural variants, most of which were previously undescribed. We show that, because we have catalogued the vast majority of common variation, over 95% of the currently accessible variants found in any individual are present in this data set. On average, each person is found to carry approximately 250 to 300 loss-of-function variants in annotated genes and 50 to 100 variants previously implicated in inherited disorders. We demonstrate how these results can be used to inform association and functional studies. From the two trios, we directly estimate the rate of de novo germline base substitution mutations to be approximately 10?8 per base pair per generation. We explore the data with regard to signatures of natural selection, and identify a marked reduction of genetic variation in the neighbourhood of genes, due to selection at linked sites. These methods and public data will support the next phase of human genetic research.
全文鏈接：http://www.nature.com/nature/journal/v467/n7319/full/nature09534.html
