講演情報
[PE2-6]マイクロサテライトの人類集団における包括的研究
○郷地 麗央1, 藤本 明洋1, 河合 洋介2 (1.東京大学大学院 医学系研究科 国際保健学専攻 人類遺伝学教室, 2.国立国際医療研究センター病院)
Microsatellites (MS) are tandem repeats of short units and have been used for population genetics, individual identification, and medical genetics. However, studies of MS on a whole genome level are limited, and genotyping methods for MS have yet to be established. Here, we analyzed approximately nine million MS regions using a previously developed MS caller (MIVcall method) for three large publicly available human genome sequencing data sets: the Korean Personal Genome Project (KPGP), Simons Genome Diversity Project (SGDP), and Human Genome Diversity Project (HGDP). Our analysis identified 253,114 polymorphic MS. A comparison among different populations suggests that MS in the coding region evolved by random genetic drift and natural selection. In an analysis of genetic structures, MS clearly revealed population structures as SNPs and detected clusters that were not found by SNPs in African and Oceanian populations. Based on the MS polymorphisms, we selected an effective MS set for individual identification. We also showed that our MS analysis method can be applied to ancient DNA samples. This study provides a comprehensive picture of MS polymorphisms and application to human population studies.