应用Y染色体SNP对新疆三个隔离人群遗传多样性的研究

人类学学报 ›› 2018, Vol. 37 ›› Issue (01): 146-156.

应用Y染色体SNP对新疆三个隔离人群遗传多样性的研究

刘树虎;伊力哈木·乃扎木;热比亚木·巴克;布帕提玛穆·阿布都克热穆;多力坤·买买提玉素甫

出版日期:2018-03-15 发布日期:2018-03-15

A study of genetic diversity of three isolated populations in Xinjiang using Y-SNP

LIU Shuhu, NIZAM Yilihamu, RABIYAMU Bake, ABDUKERAM Bupatima, DOLKUN Matyusup

Online:2018-03-15 Published:2018-03-15

摘要/Abstract

摘要： 克里雅人、罗布人、刀郎人是生活在我国西部边疆沙漠腹地、人口稀少的隔离人群。基于对这三个隔离人群179人Y染色体全序列的测序和分型,得到每个个体Y染色体所有突变的SNP位点和隶属的单倍群,并对各单倍群类型和频率进行了分析。以探知三个隔离人群的Y染色体遗传结构和遗传多样性。通过研究结果表明:克里雅人群检出12个单倍群,高频单倍群有J2a1b1(25.64%),R1a1a1b2a(20.51%),R2a(17.95%),R1a1a1b2a2(15.38%);罗布人群检出16个单倍群,高频单倍群有J2a1(43.75%),J2a2(14.06%),R2(9.38%),L1c(7.81%);刀郎人群检出40个单倍群,高频单倍群有R1b1a1a1(9.21%),R1a1a1b2a1a(7.89%),R1a1a1b2a2b(6.58%),C3c1(6.58%).三个隔离人群与维吾尔族、蒙古族、撒拉族亲缘关系较近;在单倍群类型和频率上与维吾尔族最接近且无显著性差异(f=0.833,p=0.367)。此外,三个隔离人群单倍群类型和频率显示明显的亚欧混合现象,经过长期基因融合使其具有中亚人群的典型特征,适用于法医遗传学。

关键词: 隔离人群;Y染色体;单核苷酸多态性;单倍群;遗传多样性

Abstract: The Keriyan, Lopnur and Dolan peoples are isolated populations with sparse numbers living in the western border desert of our country. By sequencing and typing the complete Y-chromosome of 179 individuals in these three isolated populations, all mutations and SNPs in the Y-chromosome and their corresponding haplotypes were obtained. Types and frequencies of each haplotype were analyzed to investigate genetic diversity and genetic structure in the three isolated populations. The results showed that 12 haplogroups were detected in the Keriyan with high frequencies of the J2a1b1 (25.64%), R1a1a1b2a (20.51%), R2a (17.95%) and R1a1a1b2a2 (15.38%) groups. Sixteen haplogroups were noted in the Lopnur with the following frequencies: J2a1 (43.75%), J2a2 (14.06%), R2 (9.38%) and L1c (7.81%). Forty haplogroups were found in the Dolan, noting the following frequencies: R1b1a1a1 (9.21%), R1a1a1b2a1a (7.89%), R1a1a1b2a2b (6.58%) and C3c1 (6.58%). These data show that these three isolated populations have a closer genetic relationship with the Uygur, Mongolian and Sala peoples. In particular, there are no significant differences in haplotype and frequency between the three isolated populations and Uygur (f=0.833, p=0.367). In addition, the genetic haplotypes and frequencies in the three isolated populations showed marked Eurasian mixing illustrating typical characteristics of Central Asian populations.

Key words: Isolated population; Y-chromosome; SNP; Haplogroup; Genetic diversity

刘树虎;伊力哈木·乃扎木;热比亚木·巴克;布帕提玛穆·阿布都克热穆;多力坤·买买提玉素甫. 应用Y染色体SNP对新疆三个隔离人群遗传多样性的研究[J]. 人类学学报, 2018, 37(01): 146-156.

LIU Shuhu, NIZAM Yilihamu, RABIYAMU Bake, ABDUKERAM Bupatima, DOLKUN Matyusup. A study of genetic diversity of three isolated populations in Xinjiang using Y-SNP[J]. Acta Anthropologica Sinica, 2018, 37(01): 146-156.