英國《自然》雜志網(wǎng)站7月8日在線發(fā)布了韓國首爾國立大學(xué)科學(xué)家完成的首個(gè)韓國人全基因組測(cè)序結(jié)果,。這是繼一名非洲人、兩名白人和一名中國人后,，全球第五例全基因組測(cè)序。
首爾大學(xué)的科學(xué)家在論文中表示,，這名代號(hào)為AK1的韓國人的測(cè)序成功,，將幫助人類更多地了解不同人種遺傳的變遷和遷徙的特性。
此前得到完整測(cè)序的四個(gè)人分別是一名非洲優(yōu)魯巴人,、基因研究的先驅(qū)詹姆斯·沃森、克里格·文特和一名代號(hào)為YH的中國人,。
韓國科學(xué)家發(fā)現(xiàn),，AK1的全基因組序列上的單核苷酸多態(tài)性位點(diǎn)（SNP）數(shù)量有345萬個(gè)，這與沃森的基因組相似,，比克里格•文特和YH的基因組要多,，少于優(yōu)魯巴人。
他們認(rèn)為,，這種差異有可能是技術(shù)上的原因,，但也有可能代表了不同個(gè)體之間一定的差異。單核苷酸多態(tài)性是人類基因組中最常見,、分布最廣泛的DNA多態(tài)性類型,。隨著人類基因組計(jì)劃的迅猛發(fā)展，越來越多的單核苷酸多態(tài)性位點(diǎn)被發(fā)現(xiàn),，使其可以廣泛應(yīng)用于人類遺傳性和遺傳相關(guān)性疾病的診斷,、群體遺傳學(xué)的研究。
在這五個(gè)人的一共953萬個(gè)SNP中,，有8%是所有人共有的,，有21%為AK1所獨(dú)有。在AK1的345萬個(gè)SNP中,，異型接合的SNP為211萬個(gè),，其與同性結(jié)合的SNP的比值為1.57，說明AK1的SNP多樣性要多于沃森,、文特和YH,，但是要少于優(yōu)魯巴人。
韓國研究人員指出,，下一步應(yīng)該用同樣的方法去分析其他人種的基因組,，以說明人種內(nèi)部和人種間的遺傳變化,。
在目前完成的五個(gè)完整基因組測(cè)序中，韓國人AK1,，中國人YH和非洲優(yōu)魯巴人是用類似方法得到的,，因此三者更具可比性。
2008年12月,，韓國聯(lián)合通訊社就提前報(bào)道了第一個(gè)完整韓國人基因組圖譜繪制成功的消息,。當(dāng)時(shí)報(bào)道透露，分析測(cè)序中使用的基因物質(zhì)來自于嘉泉醫(yī)科大學(xué)教授金圣鎮(zhèn),。2009年3月,，韓國科學(xué)家把論文提交給《自然》雜志。此次該成果發(fā)布在《自然》雜志網(wǎng)站,，是韓國研究人員首次公布其測(cè)序方法和結(jié)果,，但隱去了基因物質(zhì)的來源。
韓國聯(lián)合通訊社引用研究人員的觀點(diǎn)說,，對(duì)韓國人基因組圖譜的初步解讀證實(shí)了韓國人同中國人和日本人的差異性,。染色體堿基序列分析發(fā)現(xiàn)，在非洲人,、西方人及東方人中,，韓國人的基因?qū)儆跂|方人類型，居于中國人和日本人之間,。以SNP分析,，金圣鎮(zhèn)的染色體與沃森和中國YH的染色體序列的差異度分別為0.05%和0.04%。（生物谷Bioon.com）
生物谷推薦原始出處：
Nature 8 July 2009 | doi:10.1038/nature08211
A highly annotated whole-genome sequence of a Korean individual
Jong-Il Kim1,2,4,5,11, Young Seok Ju1,2,11, Hansoo Park1,5, Sheehyun Kim4, Seonwook Lee4, Jae-Hyuk Yi1, Joann Mudge6, Neil A. Miller6, Dongwan Hong1, Callum J. Bell6, Hye-Sun Kim4, In-Soon Chung4, Woo-Chung Lee4, Ji-Sun Lee4, Seung-Hyun Seo5, Ji-Young Yun5, Hyun Nyun Woo4, Heewook Lee4, Dongwhan Suh1,2,3, Seungbok Lee1,2,3, Hyun-Jin Kim1,3, Maryam Yavartanoo1,2, Minhye Kwak1,2, Ying Zheng1,2, Mi Kyeong Lee5, Hyunjun Park1, Jeong Yeon Kim1, Omer Gokcumen7, Ryan E. Mills7, Alexander Wait Zaranek8, Joseph Thakuria8, Xiaodi Wu8, Ryan W. Kim6, Jim J. Huntley9, Shujun Luo9, Gary P. Schroth9, Thomas D. Wu10, HyeRan Kim4, Kap-Seok Yang4, Woong-Yang Park1,2,3, Hyungtae Kim4, George M. Church8, Charles Lee7, Stephen F. Kingsmore6 & Jeong-Sun Seo1,2,3,4,5
1 Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University, Seoul 110-799, Korea
2 Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine,
3 Department of Biomedical Sciences, Seoul National University Graduate School, Seoul 110-799, Korea
4 Macrogen Inc., Seoul 153-023, Korea
5 Psoma Therapeutics, Inc., Seoul 110-799, Korea
6 National Center for Genome Resources, Santa Fe, New Mexico 87505, USA
7 Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
8 Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
9 Illumina Inc., Hayward, California 94545, USA
10 Department of Bioinformatics, Genentech Inc., South San Francisco, California 94080, USA
11 These authors contributed equally to this work.
Recent advances in sequencing technologies have initiated an era of personal genome sequences. To date, human genome sequences have been reported for individuals with ancestry in three distinct geographical regions: a Yoruba African, two individuals of northwest European origin, and a person from China1, 2, 3, 4. Here we provide a highly annotated, whole-genome sequence for a Korean individual, known as AK1. The genome of AK1 was determined by an exacting, combined approach that included whole-genome shotgun sequencing (27.8 coverage), targeted bacterial artificial chromosome sequencing, and high-resolution comparative genomic hybridization using custom microarrays featuring more than 24 million probes. Alignment to the NCBI reference, a composite of several ethnic clades5, 6, disclosed nearly 3.45 million single nucleotide polymorphisms (SNPs), including 10,162 non-synonymous SNPs, and 170,202 deletion or insertion polymorphisms (indels). SNP and indel densities were strongly correlated genome-wide. Applying very conservative criteria yielded highly reliable copy number variants for clinical considerations. Potential medical phenotypes were annotated for non-synonymous SNPs, coding domain indels, and structural variants. The integration of several human whole-genome sequences derived from several ethnic groups will assist in understanding genetic ancestry, migration patterns and population bottlenecks.
