Genetic polymorphism analyses of a novel panel of 19 X-STR loci in the Chinese Uygur ethnic minority  

新疆维吾尔族人群19个X-STR新组合基因座遗传多态性研究（英文）

作　　者：Yu-xin GUO Jian-gang CHEN Yan WANG Jiang-wei YAN Jing CHEN Tian-hua YAO Li-ping ZHANG Guang YANG Hao-tian MENG Yu-dang ZHANG Ting MEI Yao-shun LIU Qian DONG Bo-feng ZHU 

机构地区：[1]Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi'an Jiaotong University, Xi 'an 710004, China [2]Clinical Research Center of Shaanxi Province for Dental and Maxillofacial Diseases, College of Stomatology, Xi 'an ,liaotong University, Xi 'an 710004, China [3]Research Center of Stomatology, Stomatological Hospital, Xi'an Jiaotong University, Xi 'an 710004, China [4]Department of Biochemistry, Preclinical Medicine College, Xinjiang Medical University, Urumqi 830011, China [5]Criminal Police Detachment of Yili Public Security Bureau, Yili 835000, China [6]Key Laboratory of Genome Sciences, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China [7]Department of General Dentistry, Stomatological Hospital, Xi'an Jiaotong University, Xi'an 710004, China [8]Department of Pathology and Laboratory Medicine, Loma Linda University Medical Center, California 92354, USA

出　　处：《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》2016年第5期367-374,共8页浙江大学学报（英文版）B辑（生物医学与生物技术）

基　　金：Project supported by the Scientific Research Program of the Higher Education Institution of the Xinjiang Uygur Autonomous Region(No.XJEDU2011i33),China;the National Natural Science Foundation of China(No.81373248);the National Science Foundation for Distinguished Young Scholars of China(No.81525015)

摘　　要：The population genetic data and forensic parameters of 19 X-chromosome short tandem repeat （X-STR） loci in Chinese Uygur ethnic minority are presented. These loci were detected in a sample of 233 （94 males and 139 females） unrelated healthy individuals. We observed 238 alleles at the 19 X-STR loci, with the corresponding gene frequencies spanning the range from 0.0021 to 0.5644. After Bonferroni correction （P〉0.0026）, there were no signif- icant deviations from Hardy-Weinberg equilibrium. The cumulative power of discrimination in females and males, and the probability of exclusion of the 19 X-STR loci were 0.999 999 999 999 999 999 998 091,0.999 999 999 999 966, and 0.999 999 986 35, respectively. The cumulative mean exclusion chance was 0.999 999 992 849 in deficiency cases, 0.999 999 999 999 628 in normal trios, and 0.999 999 998 722 in duo cases. The high value of the forensic parameters mentioned above revealed that the novel panel of 19 loci had important values for forensic applications in the LJygur group.目的：研究新疆维吾尔族人群19个X染色体短串联重复序列（X-STR）基因座和他们组成的7组连锁基因座的单倍型多样性,评价19个X-STR新组合位点的多态信息量和累积个体识别力。为群体遗传学和法医学的应用基础研究提供数据支持;并比较维吾尔族和11个民族在共有的X-STR基因座的遗传学差异。创新点：首次应用一个新的复合扩增检测体系,研究19个X-STR基因座新的组合（DXS8378、DXS7423、DXS10148、DXS10159、DXS10134、DXS7424、DXS10164、DXS10162、DXS7132、DXS10079、DXS6789、DXS101、DXS10103、DXS10101、HPRTB、DXS6809、DXS10075、DXS10074和DXS10135）在新疆维吾尔族的遗传多态性。方法：从233个新疆维吾尔族无关、健康个体的血痕中提取基因组DNA。应用一个新的复合扩增体系,同时对19个X-STR基因座进行扩增,用毛细管电泳进行基因扫描和分型。系统分析和评价这些X-STR基因座常用的各种法医学参数及应用价值;并对7组连锁的基因座组成的单倍型进行分析。基于分子方差分析的方法对新疆维吾尔族和其他11个民族共有的X-STR基因座进行比较研究,探寻这些群体在等位基因频率分布上的差异。结论：研究19个X-STR基因座共发现238个等位基因,相应的基因频率分布在0.0021~0.5644;女性累积个体识别力为0.999 999 999 999 999 999 998 091,男性为0.999 999 999 999 966,累积非父排除率为0.999 999 986 35。分子方差分析的结果显示新疆维吾尔族人群与格陵兰和索马里人群差异最大,有8个基因座存在差异;与马来西亚和关中汉族人群差异最小,仅3个基因座存在差异。结果表明：这19个X-STR基因座多态性高、且具有较高的累积个体识别力,可很好地应用于法医学及群体遗传学研究,也为新疆维吾尔族人群的遗传背景的研究提供基础资料。

关 键 词：X-CHROMOSOME Short tandem repeat （STR） UYGUR Genetic polymorphism Forensic 

分 类 号：R394.5[医药卫生—医学遗传学]