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蓝海人类学在线 Ryan WEI's Forum of Anthropology

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人类的基因组拷贝数变异(CNV)图景

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发表于 2010-1-16 20:43 | 显示全部楼层 |阅读模式
Genotype, haplotype and copy-number variation in worldwide human populations

Mattias Jakobsson1,2,14, Sonja W. Scholz4,5,14, Paul Scheet1,3,14, J. Raphael Gibbs4,5, Jenna M. VanLiere1, Hon-Chung Fung4,6, Zachary A. Szpiech1, James H. Degnan1,2, Kai Wang7, Rita Guerreiro4,8, Jose M. Bras4,8, Jennifer C. Schymick4,9, Dena G. Hernandez4, Bryan J. Traynor4,10, Javier Simon-Sanchez4,11, Mar Matarin4, Angela Britton4, Joyce van de Leemput4,5, Ian Rafferty4, Maja Bucan7, Howard M. Cann12, John A. Hardy5, Noah A. Rosenberg1,2,3 & Andrew B. Singleton4,13

Genome-wide patterns of variation across individuals provide a powerful source of data for uncovering the history of migration, range expansion, and adaptation of the human species. However, high-resolution surveys of variation in genotype, haplotype and copy number have generally focused on a small number of population groups1, 2, 3. Here we report the analysis of high-quality genotypes at 525,910 single-nucleotide polymorphisms (SNPs) and 396 copy-number-variable loci in a worldwide sample of 29 populations. Analysis of SNP genotypes yields strongly supported fine-scale inferences about population structure. Increasing linkage disequilibrium is observed with increasing geographic distance from Africa, as expected under a serial founder effect for the out-of-Africa spread of human populations. New approaches for haplotype analysis produce inferences about population structure that complement results based on unphased SNPs. Despite a difference from SNPs in the frequency spectrum of the copy-number variants (CNVs) detected—including a comparatively large number of CNVs in previously unexamined populations from Oceania and the Americas—the global distribution of CNVs largely accords with population structure analyses for SNP data sets of similar size. Our results produce new inferences about inter-population variation, support the utility of CNVs in human population-genetic research, and serve as a genomic resource for human-genetic studies in diverse worldwide populations.


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 楼主| 发表于 2010-1-16 20:44 | 显示全部楼层
对人类种群在整个基因组范围内的变化模式进行分析,可以为世界范围内的人类迁移和
适应模式提供遗传证据。本期Nature上两篇形成对比的论文显示了这种方法的威力。通
过将大量数据集结合起来,Lohmueller等人获得了对1/15的非洲裔美国人和1/20的欧洲
裔美国人所携带的有害突变数量的精确估计(通过对11,000个基因重新测序获得)。他
们发现,有欧洲背景的人与有非洲背景的人相比,其基因组中有潜在危害性的突变更
多。这个现象可以被理解为伴随人类在欧洲定居而出现的“走出非洲”瓶颈事件所留下
的一个遗传烙印。(Letter p. 994)Jackobsson等人通过分析在“人类基因组多样化
项目”中所涉及的29个种群,为我们提供了关于人类变化的一个更宽广的画面。他们获
得了人类基因组中超过500,000个标记的基因型数据。与对有非洲背景和欧洲背景的美
国人所做研究相呼应的是,这些数据表明,与非洲的地理距离越远,连锁不平衡
(linkage disequilibrium)越大。
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