71个Y-SNP位点在西北汉族人群的多态性及法医学应用价值
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摘要
目的分析Y染色体上71个SNP位点在西北地区汉族人群的多态性,评价其法医学应用价值,并整合前期研究成果,筛选出适用于华东、华南、西北地区汉族人群法医学检验的Y-SNP位点。方法采用多重聚合酶链反应(polymerase chain reaction,PCR)和基质辅助激光解吸/电离-飞行时间质谱(matrix-assisted laser desorption/ionization time-of-flight mass spectrometry,MALDI-TOF-MS)技术对西北地区202名汉族男性无关个体进行71个Y-SNP位点的分型,计算等位基因频率和基因多样性(gene diversity,GD)、单倍型多样性(haplotype diversity,HD)值,同时结合前期研究所取得的数据筛选出适用于西北、华南和华东汉族群体的Y-SNP位点。结果在所检测的71个位点中,有67个位点在西北汉族男性人群中呈多态性分布,GD值在0.0100～0.5022,中度信息量(0.2≤GD<0.3)的位点有22个,高度信息量(GD≥0.3)的位点有25个,同时适用于西北、华南和华东汉族群体的位点有26个。结论 Y-SNP位点在亲权鉴定和个体识别中具有应用价值,在判断人群分布及迁移信息方面亦具有潜在的应用价值。
Objective To analyze the polymorphism of 71 SNP loci on Y chromosome in Han population of Northwest China, to assess its forensic application value, and to screen out Y-SNP loci for forensic examination of Han population in East, South, and Northwest China based on the integration of previous research results. Methods Multiplex polymerase chain reaction(PCR) and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry(MALDI-TOF-MS) were performed on 71 Y-SNP loci of 202 unrelated Han male individuals in Northwest China. Gene diversity(GD) and haplotype diversity(HD) values were calculated, and then Y-SNP loci of Han population in East, South,and Northwest China were screened with the combination of data from previous research. Results Among the detected 71 loci, 67 loci were polymorphic in the Northwest Han male population, with GD values 0.010 0-0.502 2. There were 22 and 25 loci with a moderate(0.2≤GD<0.3) and high(GD≥0.3) amount of genetic information, respectively. There were 26 loci for the Han communities in Northwest, South, and East China. Conclusion Y-SNP loci are potential in paternity testing and individual identification, as well as the judgement of population distribution and migration.
Objective To analyze the polymorphism of 71 SNP loci on Y chromosome in Han population of Northwest China, to assess its forensic application value, and to screen out Y-SNP loci for forensic examination of Han population in East, South, and Northwest China based on the integration of previous research results. Methods Multiplex polymerase chain reaction(PCR) and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry(MALDI-TOF-MS) were performed on 71 Y-SNP loci of 202 unrelated Han male individuals in Northwest China. Gene diversity(GD) and haplotype diversity(HD) values were calculated, and then Y-SNP loci of Han population in East, South,and Northwest China were screened with the combination of data from previous research. Results Among the detected 71 loci, 67 loci were polymorphic in the Northwest Han male population, with GD values 0.010 0-0.502 2. There were 22 and 25 loci with a moderate(0.2≤GD<0.3) and high(GD≥0.3) amount of genetic information, respectively. There were 26 loci for the Han communities in Northwest, South, and East China. Conclusion Y-SNP loci are potential in paternity testing and individual identification, as well as the judgement of population distribution and migration.
引文
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[12]孙元田,杨波,区彩莹,等.Y-SNP多态性揭示的海南岛黎族、回族和仡隆人群的起源[J].科技导报,2007,25(24):44-47.
[13]李莉,柳燕,林源,等.从实际案例探讨父系关系鉴定中单独检验Y-STR标记的局限性[J].中国司法鉴定,2015(3):112-113.
[2]BOUAKAZE C,KEYSER C,AMORY S,et al.First successful assay of Y-SNP typing by SNaP-shot minisequencing on ancient DNA[J].Int J Legal Med,2007,121(6):493-499.
[3]BUTLER J M.法医DNA分型专论:方法学[M].3版.侯一平,李成涛,译.上海:科学出版社,2013:294.
[4]International Hapmap Project[DB/OL].(2005-10-26)[2015-4-20].www.hapmap.org.
[5]The National Center of Biotechnology Information[DB/OL].(1992-10-01)[2016-09-15].http://www.ncbi.nlm.nih.gov/pubmed.
[6]Agena Bioscience’s online design tools[DB/OL].(2007-08-24)[2016-08-20].http://www.mysequenom.com/Home.
[7]宋雨桐,李莉,张立男,等.MALDI-TOF-MS对Y染色体上66个二等位基因的检测[J].法医学杂志,2017,33(3):239-243.
[8]侯一平.法医物证学[M].4版.北京:人民卫生出版社,2016:92.
[9]EXCOFFIER L,LICHER H E.Arlequin suite ver3.5:a new series of programs to perform population genetics analyses under Linux and Windows[J].Mol Ecol Resour,2010,10(3):564-567.
[10]WRIGHT.Evolution and the genetics of populations[M].Chicago:University of Chicago Press,1978:157.
[11]LI L,SONG Y,LIU Y,et al.Genetic diversity of 71 Y-chromosomal biallelic markers in the Han population living in Southern China[J].Forensic Sci Int Genet Suppl Ser,2017,6:e180-e181.
[12]孙元田,杨波,区彩莹,等.Y-SNP多态性揭示的海南岛黎族、回族和仡隆人群的起源[J].科技导报,2007,25(24):44-47.
[13]李莉,柳燕,林源,等.从实际案例探讨父系关系鉴定中单独检验Y-STR标记的局限性[J].中国司法鉴定,2015(3):112-113.