新疆哈萨克族人群23个常染色体STR基因座的遗传多态性及与其他民族的遗传相关性
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摘要
目的调查新疆哈萨克族人群23个常染色体STR基因座遗传多态性,探讨其群体遗传关系及法医学应用价值。方法用华夏TM白金试剂盒,对新疆地区550名哈萨克族无关个体DNA进行扩增,3500XL遗传分析仪电泳分析,Gene Mapper ID-X v1. 4软件分析等位基因片段大小。统计分析23个STR基因座的频率数据和法医遗传学参数,并与其他地区已有人群数据进行比较。结果新疆哈萨克族各基因座个体识别率DP值在0. 820 6~0. 987 9,多态信息含量PIC值在0. 588 8~0. 920 0。累积个体识别率(CDP)和累积非父排除率(CPE)分别为1~9. 294 2×10-29和1~6. 9503×10-11。本研究根据Nei's DA遗传距离计算,新疆哈萨克族与数据库中的新疆和田哈萨克族的遗传距离最近(0. 004 4),与西藏藏族的遗传距离相对最远(0. 033 3)。结论这23个STR基因座在新疆哈萨克族人群中具有丰富的遗传多态性。研究不同民族群体的遗传多态性对了解他们的起源、迁移以及相互关系有重要的意义。
Objective To investigate the genetic polymorphisms of 23 autosomal short tandem repeats( STR) loci in Xinjiang Kazakh population,and to explore the population-based genetic relationships and to evaluate its potential application in forensic medicine.Methods The DNA from 550 unrelated individuals in Xinjiang Kazakh population were amplified using HuaxiaTMPlatinum kit,and the PCR products were analyzed by electrophoresis through3500 XL genetic analyzer. The fragment size of alleles was analyzed by GeneMapper ID-X v1. 4. Allele frequencies and forensic genetic parameters of 23 STR loci were statistically analyzed and compared with the available data of other populations from different races and regions. Results The power of discrimination( DP),and polymorphic information content( PIC) ranged from 0. 820 6 to 0. 987 9,0. 588 8 to 0. 920 0. The total discrimination power andcumulate probability of exclusion were 1-9. 294 2 ×10~(-29) and 1-6. 950 3 ×10~(-11),respectively. Comparing with 23 reference populations,the genetic distance( Nei's DA) between Xinjiang Kazakh in this study and Xinjiang Hotan Kazakh in data base in data base was the smallest( 0. 004 4),while it was relatively larger between Xinjiang Kazakh and Tibet Tibetan( 0. 033 3). Conclusions The 23 STR provided highly polymorphic information and forensic efficiency for forensic individual identification and paternity testing. The study of genetic diversity among different populations may support the research of their origins,migrations and their relationships.
Objective To investigate the genetic polymorphisms of 23 autosomal short tandem repeats( STR) loci in Xinjiang Kazakh population,and to explore the population-based genetic relationships and to evaluate its potential application in forensic medicine.Methods The DNA from 550 unrelated individuals in Xinjiang Kazakh population were amplified using HuaxiaTMPlatinum kit,and the PCR products were analyzed by electrophoresis through3500 XL genetic analyzer. The fragment size of alleles was analyzed by GeneMapper ID-X v1. 4. Allele frequencies and forensic genetic parameters of 23 STR loci were statistically analyzed and compared with the available data of other populations from different races and regions. Results The power of discrimination( DP),and polymorphic information content( PIC) ranged from 0. 820 6 to 0. 987 9,0. 588 8 to 0. 920 0. The total discrimination power andcumulate probability of exclusion were 1-9. 294 2 ×10~(-29) and 1-6. 950 3 ×10~(-11),respectively. Comparing with 23 reference populations,the genetic distance( Nei's DA) between Xinjiang Kazakh in this study and Xinjiang Hotan Kazakh in data base in data base was the smallest( 0. 004 4),while it was relatively larger between Xinjiang Kazakh and Tibet Tibetan( 0. 033 3). Conclusions The 23 STR provided highly polymorphic information and forensic efficiency for forensic individual identification and paternity testing. The study of genetic diversity among different populations may support the research of their origins,migrations and their relationships.
引文
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[11] John M.Butler著.侯一平,李成涛主译.法医DNA分型专论:证据解释[M].北京:科学出版社,2018:165-215.
[2] Wang Z,Zhou D,Jia ZJ,et al. Developmental validation of the Huaxia platinum system and application in 3 main ethnic groups of China[J].Sci Reports,2016,6:1-9.
[3] Hares DR. Expanding the CODIS core loci in the United States[J]. Forensic Sci Int Gene,2012,6:e52-e54.
[4] Hares DR. Addendum to expanding the CODIS core loci in the United States[J]. Forensic Sci Int Genet,2012,6:e135-e141.
[5] Hares DR. Selection and implementation of expanded CODIS core loci in the United States[J]. Forensic Sci Int Genet,2015,17:33-34.
[6]李生斌.法医学[M]. 2版.北京:人民卫生出版社,2017:337-360.
[7] Amar A,Brautbar C,Motro U,et al. Genetic variation of three tetrameric tandem repeats in four distict Israel ethnic groups[J]. J Forensic Sci,1999,44:983-986.
[8]张晓红,李平,翁玮霞,等.新疆喀什地区维吾尔族18个STR基因座的遗传多态性[J].法医学杂志,2012,28:451-455.
[9]李生斌.中华民族遗传结构与亲缘关系[M].西安:西安交通大学出版社,2016:337-345.
[10]李辉,金力. Y染色体与东亚族群演化[M].上海:上海科学技术出版社,2015:1-25.
[11] John M.Butler著.侯一平,李成涛主译.法医DNA分型专论:证据解释[M].北京:科学出版社,2018:165-215.