Evaluation of the genetic parameters and mutation analysis of 22 STR loci in the central Chinese Han population
Evaluation of the genetic parameters and mutation analysis of 22 STR loci in the central Chinese Han population
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DOI：
10.1007/s00414-016-1389-1
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发表时间：
2017-01-01
影响因子：
2.1
通讯作者：
Zeng Zhaoshu
中科院分区：
文献类型：
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作者：
Wang Hongdan;Kang Bing;Zeng Zhaoshu
目前，汉族是中国的主体民族，也是世界上人口最多的民族。这是一个伟大的资源，研究微卫星突变和研究人种。本研究旨在调查河南省2475名个体22个常染色体STR基因座的遗传多态性和突变情况。DNA扩增并使用PowerplastTM 24系统进行基因分型。分析22个STR基因座的基因频率、法医学参数和突变率。河南汉族人群共检测到295个等位基因，等位基因频率范围为0.0003 ~ 0.5036。为了探讨河南汉族与其他14个不同群体的遗传关系，我们将现有的15个STR基因座的数据与以前发表的数据进行了比较。结果表明，河南汉族与闽南汉族、毛南族、彝族和广东汉族的亲缘关系较近，而与摩洛哥人、摩洛哥人、马来族和维吾尔族的亲缘关系较远。除D2 S441、D13 S317、PentaE、D2 S1338、D5 S818、TPOX和D19 S433外，其余15个STR基因座均发生了突变。在15个STR基因座中共观察到40个突变事件。突变率为0 ~ 4.85 × 10 ~（-3）。在这项研究中，39个突变是单步突变，只有一个在FGA包括两个步骤。STR基因座突变在亲子鉴定中普遍存在，但河南汉族人群中22个STR基因座的突变研究尚未见报道。它在法医学个体识别和亲权鉴定中具有重要意义。
At present, the Han nationality is China's main ethnic group and also the most populous nation in the world. This is a great resource to study microsatellite mutations and for the study of ethnogeny. The aim of this study is to investigate the genetic polymorphisms and mutations of 22 autosomal STR loci in 2475 individuals from Henan province, China. DNA is amplified and genotyped using PowerPlex (TM) 24 system. The gene frequencies, forensic parameters, and the mutation rate of the 22 STR loci are analyzed. A total of 295 alleles are observed in this Henan Han population, and the allelic frequencies ranged from 0.0003 to 0.5036. In order to investigate the genetic relationships between the Henan Han and the other 14 different populations, our present data were compared with previously published data for the same 15 STR loci. The results indicated that the Henan Han had closer genetic relationships the groups including Minnan Han, Maonan, Yi and Guangdong Han groups while the South morocco population, the Moroccan population, the Malay group, and the Uigur stand away from Henan Han. Except of D2S441, D13S317, PentaE, D2S1338, D5S818, TPOX and D19S433, the mutation events are found in the other 15 STR loci. A total of 40 mutation events are observed in the 15 STR loci. The mutation rates are ranged from 0 to 4.85 x 10(-3). In this study, 39 mutations are single-step mutations, and only one at FGA comprised two steps. STR mutation is commonly existed in paternity testing, while there are no STR mutation studies of the 22 STR loci in the Henan Han population. It is of great importance in forensic individual discrimination and paternal testing.