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四川汉族19个X染色体短串联重复序列(X-STR)基因座的遗传多态性及其与中国其他人群的比较。

Genetic polymorphisms for 19 X-STR loci of Sichuan Han ethnicity and its comparison with Chinese populations.

作者信息

He Guanglin, Li Ye, Zou Xing, Wang Mengge, Chen Pengyu, Liao Miao, Wu Jin

机构信息

Department of Forensic Genetics, West China School of Basic Sciences and Forensic Medicine, Sichuan University (West China University of Medical Sciences), Chengdu, 610041 Sichuan, China.

Department of Forensic Medicine, College of Basic Medicine, Chongqing Medical University, Chongqing 400016, China.

出版信息

Leg Med (Tokyo). 2017 Nov;29:6-12. doi: 10.1016/j.legalmed.2017.09.001. Epub 2017 Sep 15.

Abstract

X-chromosomal short tandem repeats (X-STRs) can be serviced as a complementary tool in forensic deficiency cases and other complicated kinship identification. To investigate the genetic variation of the western Chinese Han population, genetic polymorphisms of 19 X-STR loci (DXS8378, DXS7423, DXS10148, DXS10159, DXS10134, DXS7424, DXS10164, DXS10162, DXS7132, DXS10079, DXS6789, DXS101, DXS10103, DXS10101, HPRTB, DXS6809, DXS10075, DXS10074 and DXS10135) included in the AGCU X19 PCR amplification kit were obtained from 201 Chinese Han individuals (108 females and 93 males) residing in Sichuan province, western China. A total of 211 alleles were found from the 19 X-STR loci, and 4-22 alleles were found for each locus with the corresponding allele frequencies spanned from 0.0034 to 0.6395. The combined PDF and PDM were 0.9999999999999999999992 and 0.9999999999997, respectively. The combined MEC, MEC, MEC as well as MEC were 0.999999958110254, 0.999999999996533, 0.999999999996695 and 0.999999992428394, respectively. The number of haplotypes observed in the seven linkage groups varied from 27 to 97 for 108 male individuals with the corresponding haplotype diversities spanned from 0.9424 (DXS7424-DXS101) to 0.9979 (DXS7132-DXS10079-DXS10075-DXS10074). The above-mentioned results indicated that the 19 X-STR loci and the seven linkage groups are highly polymorphic and informative in the Sichuan Han population. Results from population comparisons and phylogenetic analyses demonstrated that genetic heterogeneity widely existed between the Sichuan Han population and Xinjiang minority ethnic groups (Uyghur and Kazakh) and genetic affinity was identified in populations which possessed the same ethno-origin or close geographic origin.

摘要

X染色体短串联重复序列(X-STRs)可作为法医鉴定中疑难案件及其他复杂亲缘关系鉴定的补充工具。为研究中国西部汉族人群的遗传变异情况,从居住在中国西部四川省的201名汉族个体(108名女性和93名男性)中获取了AGCU X19 PCR扩增试剂盒中包含的19个X-STR基因座(DXS8378、DXS7423、DXS10148、DXS10159、DXS10134、DXS7424、DXS10164、DXS10162、DXS7132、DXS10079、DXS6789、DXS101、DXS10103、DXS10101、HPRTB、DXS6809、DXS10075、DXS10074和DXS10135)的基因多态性数据。在这19个X-STR基因座中共发现211个等位基因,每个基因座发现4至22个等位基因,相应的等位基因频率范围为0.0034至0.6395。联合个体识别力(PDF)和联合非父排除率(PDM)分别为0.9999999999999999999992和0.9999999999997。联合父系单倍型排除概率(MEC)、联合母系单倍型排除概率(MEC)、联合双亲单倍型排除概率(MEC)以及联合单亲单倍型排除概率(MEC)分别为0.999999958110254、0.999999999996533、0.999999999996695和0.999999992428394。在108名男性个体的7个连锁群中观察到的单倍型数量从27到97不等,相应的单倍型多样性范围为0.9424(DXS7424 - DXS101)至0.9979(DXS7132 - DXS10079 - DXS10075 - DXS10074)。上述结果表明,这19个X-STR基因座和7个连锁群在四川汉族人群中具有高度多态性和信息性。群体比较和系统发育分析结果表明,四川汉族人群与新疆少数民族群体(维吾尔族和哈萨克族)之间广泛存在遗传异质性,而在具有相同民族起源或相近地理起源的群体中发现了遗传亲和力。

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