據(jù)日本共同社報(bào)道，日本理化學(xué)研究所基因組醫(yī)科學(xué)研究中心日前通過(guò)新一代DNA測(cè)序儀成功繪制出首份日本人基因組圖譜,。該成果24日發(fā)表在美國(guó)Nature Genetics雜志網(wǎng)絡(luò)版上,。
DNA一共有4種堿基排列組合,，人類(lèi)大約有30億對(duì)堿基對(duì)。新一代測(cè)序儀可將DNA進(jìn)行極其精細(xì)的切片,，對(duì)大量切片同時(shí)進(jìn)行高速測(cè)序,。
研究人員采用美國(guó)illumina公司的儀器，從一名日本男性的血液中提取DNA,，用時(shí)約5個(gè)月繪制出了基因組圖譜,。據(jù)悉，2003年完成的首個(gè)人體基因組圖譜耗時(shí)長(zhǎng)達(dá)10年以上,，而使用最新儀器只需1到2周就可完成,。
研究共找出約313萬(wàn)處因人而異的堿基，新發(fā)現(xiàn)了國(guó)際基因研究項(xiàng)目繪制出的基因組圖譜中所沒(méi)有的約300萬(wàn)個(gè)堿基對(duì),。
項(xiàng)目組組長(zhǎng)角田達(dá)彥表示“只有一個(gè)人還看不出日本人的特征,，如果能繪制出數(shù)十人的基因組圖譜，這一特征就應(yīng)該會(huì)顯現(xiàn)出來(lái)”,。（生物谷Bioon.com）
生物谷推薦英文摘要：
Nature Genetics | doi:10.1038/ng.691
Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing
Akihiro Fujimoto1,2, Hidewaki Nakagawa1, Naoya Hosono1, Kaoru Nakano1, Tetsuo Abe1, Keith A Boroevich1, Masao Nagasaki3, Rui Yamaguchi3, Tetsuo Shibuya3, Michiaki Kubo1, Satoru Miyano2,3, Yusuke Nakamura1,3 & Tatsuhiko Tsunoda1,2
We report the analysis of a Japanese male using high-throughput sequencing to ×40 coverage. More than 99% of the sequence reads were mapped to the reference human genome. Using a Bayesian decision method, we identified 3,132,608 single nucleotide variations (SNVs). Comparison with six previously reported genomes revealed an excess of singleton nonsense and nonsynonymous SNVs, as well as singleton SNVs in conserved non-coding regions. We also identified 5,319 deletions smaller than 10 kb with high accuracy, in addition to copy number variations and rearrangements. De novo assembly of the unmapped sequence reads generated around 3 Mb of novel sequence, which showed high similarity to non-reference human genomes and the human herpesvirus 4 genome. Our analysis suggests that considerable variation remains undiscovered in the human genome and that whole-genome sequencing is an invaluable tool for obtaining a complete understanding of human genetic variation.
