马来西亚三个主要族群（马来人、华人及印度人）中16个Y染色体短串联重复序列的单倍型多样性
Haplotype diversity of 16 Y-chromosomal STRs in three main ethnic populations (Malays, Chinese and Indians) in Malaysia.
作者信息
Chang Yuet Meng, Perumal Revathi, Keat Phoon Yoong, Kuehn Daniel L C
机构信息
Forensic DNA Laboratory, Department of Chemistry, Petaling Jaya, Malaysia.
出版信息
Forensic Sci Int. 2007 Mar 22;167(1):70-6. doi: 10.1016/j.forsciint.2006.01.002. Epub 2006 Feb 2.
We have analyzed 16 Y-STR loci (DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635 or Y-GATA C4, DYS392, Y-GATA H4, DYS437, DYS438 and DYS448) from the non-recombining region of the human Y-chromosome in 980 male individuals from three main ethnic populations in Malaysia (Malay, Chinese, Indian) using the AmpFlSTR((R)) Y-filertrade mark (Applied Biosystems, Foster City, CA). The observed 17-loci haplotypes and the individual allele frequencies for each locus were estimated, whilst the locus diversity, haplotype diversity and discrimination capacity were calculated in the three ethnic populations. Analysis of molecular variance indicated that 88.7% of the haplotypic variation is found within population and 11.3% is between populations (fixation index F(ST)=0.113, p=0.000). This study has revealed Y-chromosomes with null alleles at several Y-loci, namely DYS458, DYS392, DYS389I, DYS389II, DYS439, DYS448 and Y-GATA H4; and several occurrences of duplications at the highly polymorphic DYS385 loci. Some of these deleted loci were in regions of the Y(q) arm that have been implicated in the occurrence of male infertility.
我们使用AmpFlSTR((R)) Y-filer商标（应用生物系统公司，加利福尼亚州福斯特城），对马来西亚三个主要种族群体（马来族、华裔、印度裔）的980名男性个体的人类Y染色体非重组区域中的16个Y-STR基因座（DYS456、DYS389I、DYS390、DYS389II、DYS458、DYS19、DYS385a/b、DYS393、DYS391、DYS439、DYS635或Y-GATA C4、DYS392、Y-GATA H4、DYS437、DYS438和DYS448）进行了分析。估计了观察到的17个基因座单倍型以及每个基因座的个体等位基因频率，同时计算了这三个种族群体的基因座多样性、单倍型多样性和鉴别能力。分子方差分析表明，88.7%的单倍型变异存在于群体内部，11.3%存在于群体之间（固定指数F(ST)=0.113，p=0.000）。本研究揭示了在几个Y基因座（即DYS458、DYS392、DYS389I、DYS389II、DYS439、DYS448和Y-GATA H4）存在无效等位基因的Y染色体；以及在高度多态的DYS385基因座出现了几次重复。其中一些缺失的基因座位于Y(q)臂中与男性不育发生有关的区域。
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