广东汉族人群21个常染色体STR基因座遗传多态性
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摘要
目的调查研究广东汉族人群21个常染色体短串联重复序列(STR)基因座的遗传多态性。方法采用Expressmarker22STR荧光检测试剂盒,对618例广东汉族无关个体21个常染色体STR基因座(D18S51、FGA、D21S11、D8S1179、vWA、D13S317、D16S539、D7S820、TH01、D3S1358、D5S818、CSF1PO、D2S1338、D19S433、D12S223、D2S441、D10S1248、TPOX、D6S1043、PentaE、PentaD)和1个性别位点进行复合扩增,用AB3500分析仪进行基因分型,用Modified-Powerstates、Phylip3.695和Mega7.0软件进行法医遗传学参数统计分析及Hardy-Weinberg平衡检验、遗传距离计算、进化树绘制。结果广东汉族群体中共检出223个等位基因,各基因座分布均符合Hardy-Weinberg平衡定律(P>0.05),频率分布0.000 8-0.525 1;杂合度、个体识别力、多态信息含量等法医学参数显示,除TH01和TPOX基因座,其余STR基因座的均具有高度遗传多态性;群体进化树分析显示该人群与贵州汉族人群亲缘关系最近,与云南汉族人群亲缘关系最远。结论这21个常染色体STR基因座在广东汉族人群中具有较高的多态性和较好的个体识别能力,是较理想的遗传标记,能满足法医学个体识别和亲权鉴定的需要,所得到的数据可为广东汉族的群体遗传学研究提供依据。
Objective To investigate the genetic polymorphisms of 21 autosomal short tandem repeats(STR)loci in Guangdong Han population.Methods The 21 autosomal STR loci, including D18S51, FGA, D21S11, D8S1179, vWA, D13S317, D16S539, D7S820, TH01, D3S1358, D5S818, CSF1PO, D2S1338, D19S433, D12S223, D2S441, D10S1248, TPOX, D6S1043, Penta E and Penta D, along with the amelogenin locus used for sex typing, were genotyped in 618 unrelated Han individuals living in Guangdong province using multiplex amplification via the Expressmarker 22 STR loci direct PCR amplification kit. PCR products were separated and analyzed by the AB3500 automatic genetic analyzer and Genemapper IDX v1.5 software. Statistical analysis of forensic genetics parameters, Hardy-Weinberg equilibrium test, genetic distance calculation and phylogenetic tree were performed with Modified-Powerstates, Phylip3.695 and Mega7.0 software. Results Among the above Han population, we found 223 alleles in total. The allele frequency ranged from 0.000 8 to 0.525 1. The analysis of forensic parameters such as heterozygosity(H), power of discrimination(DP)and polymorphism information content(PIC)showed that all the STR loci except the TH01 and TPOX loci had highly genetic polymorphism. No deviation of the Hardy-Weinberg equilibrium was observed. The phylogenetic tree analysis suggested that Guangdong Han population had a relative close genetic relationship with Guizhou Han population and the farthest genetic relationship with Yunnan Han population. Conclusion The 21 STR loci have highly polymorphism and good individual identification ability in Guangdong Han population. They are ideal genetic markers and can meet the needs of forensic individual identification and parental authority identification. It can provide basis data for population genetics research of Guangdong Han population.
Objective To investigate the genetic polymorphisms of 21 autosomal short tandem repeats(STR)loci in Guangdong Han population.Methods The 21 autosomal STR loci, including D18S51, FGA, D21S11, D8S1179, vWA, D13S317, D16S539, D7S820, TH01, D3S1358, D5S818, CSF1PO, D2S1338, D19S433, D12S223, D2S441, D10S1248, TPOX, D6S1043, Penta E and Penta D, along with the amelogenin locus used for sex typing, were genotyped in 618 unrelated Han individuals living in Guangdong province using multiplex amplification via the Expressmarker 22 STR loci direct PCR amplification kit. PCR products were separated and analyzed by the AB3500 automatic genetic analyzer and Genemapper IDX v1.5 software. Statistical analysis of forensic genetics parameters, Hardy-Weinberg equilibrium test, genetic distance calculation and phylogenetic tree were performed with Modified-Powerstates, Phylip3.695 and Mega7.0 software. Results Among the above Han population, we found 223 alleles in total. The allele frequency ranged from 0.000 8 to 0.525 1. The analysis of forensic parameters such as heterozygosity(H), power of discrimination(DP)and polymorphism information content(PIC)showed that all the STR loci except the TH01 and TPOX loci had highly genetic polymorphism. No deviation of the Hardy-Weinberg equilibrium was observed. The phylogenetic tree analysis suggested that Guangdong Han population had a relative close genetic relationship with Guizhou Han population and the farthest genetic relationship with Yunnan Han population. Conclusion The 21 STR loci have highly polymorphism and good individual identification ability in Guangdong Han population. They are ideal genetic markers and can meet the needs of forensic individual identification and parental authority identification. It can provide basis data for population genetics research of Guangdong Han population.
引文
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[3] 邓志辉,吴国光,郝桂琴,等.Y染色体特异STR位点应用于无创伤性产前胎儿遗传信息的研究.中国输血杂志,2003,16(3):150-153.
[4] 孙耀东,李健,陈月勇,等.盐城地区汉族人群15个STR基因座的遗传多态性.中国法医学杂志,2006,21(4):235-236.
[5] 赵方,伍新尧,蔡贵庆,等.Modified-Powerstates软件在法医生物统计中应用.中国法医学杂志,2003,18(5):297-298.
[6] 邹凯南,曹禹,夏子芳,等.Expressmarker 22 STR荧光检测试剂盒的法医学应用.法医学杂志,2012,28(6):448-450.
[7] Gill P,Urquhart A,Millican E,et al.A new method of STR interpretation using inferential logic -development of a criminal intelligence database.International Legal Medicine,1996,109(1):14-22.
[8] 穆豪放,张盾,殷才湧,等.北方汉族21个常染色体STR基因座和1个Y染色体STR基因座的群体遗传学调查.中国司法鉴定,2015(2):67-71.
[9] Butler JM.法医DNA分型专论:方法学.侯一平,李成涛.译.北京:科学出版社,2013:88-90.
[10] 姚军,熊克扬,刑佳鑫,等.江西汉族人群15个常染色体STR位点的遗传多态性.中国法医学杂志,2017(4):423-424.
[11] 陈雁,朱宇宁,吕时铭,等.浙江省汉族人群18-STR基因座的分型资料及其应用.中山大学学报(医学科学版),2010,31(1):122-128.
[12] 张黎黎,赵莎莎,尹耕心,等.安徽汉族人群21个STR基因座遗传多态性.中国法医学杂志,2017,32(3):314-316.
[13] 胡利平,杜雷,张秀峰,等.云南汉族人群20个常染色体STR基因座遗传多态性.昆明医科大学学报,2016,37(5):17-21.
[14] 张红岩,万加华,高自华,等.青岛地区汉族群体15个STR基因座的遗传多态性研究.中国优生与遗传杂志,2011(7):24-26.
[15] 梁芹,张红玲,戴佳林,等.贵州省汉族群体22个STR基因座遗传多态性.中国法医学杂志,2015,30(3):307-309.
[16] 叶萍,于卫建,王颖,等.辽宁地区汉族人群4个常染色体STR基因座遗传多态性.中国法医学杂志,2008,23(3):199.
[2] Whitaker JP,Clayton TM,Urquhart AJ,et al.Short tandem repeat typing of bodies from a mass disaster:high success rate and characteristic amplification patterns in highly degraded samples.Biotechniques,1995,18(4):670-674.
[3] 邓志辉,吴国光,郝桂琴,等.Y染色体特异STR位点应用于无创伤性产前胎儿遗传信息的研究.中国输血杂志,2003,16(3):150-153.
[4] 孙耀东,李健,陈月勇,等.盐城地区汉族人群15个STR基因座的遗传多态性.中国法医学杂志,2006,21(4):235-236.
[5] 赵方,伍新尧,蔡贵庆,等.Modified-Powerstates软件在法医生物统计中应用.中国法医学杂志,2003,18(5):297-298.
[6] 邹凯南,曹禹,夏子芳,等.Expressmarker 22 STR荧光检测试剂盒的法医学应用.法医学杂志,2012,28(6):448-450.
[7] Gill P,Urquhart A,Millican E,et al.A new method of STR interpretation using inferential logic -development of a criminal intelligence database.International Legal Medicine,1996,109(1):14-22.
[8] 穆豪放,张盾,殷才湧,等.北方汉族21个常染色体STR基因座和1个Y染色体STR基因座的群体遗传学调查.中国司法鉴定,2015(2):67-71.
[9] Butler JM.法医DNA分型专论:方法学.侯一平,李成涛.译.北京:科学出版社,2013:88-90.
[10] 姚军,熊克扬,刑佳鑫,等.江西汉族人群15个常染色体STR位点的遗传多态性.中国法医学杂志,2017(4):423-424.
[11] 陈雁,朱宇宁,吕时铭,等.浙江省汉族人群18-STR基因座的分型资料及其应用.中山大学学报(医学科学版),2010,31(1):122-128.
[12] 张黎黎,赵莎莎,尹耕心,等.安徽汉族人群21个STR基因座遗传多态性.中国法医学杂志,2017,32(3):314-316.
[13] 胡利平,杜雷,张秀峰,等.云南汉族人群20个常染色体STR基因座遗传多态性.昆明医科大学学报,2016,37(5):17-21.
[14] 张红岩,万加华,高自华,等.青岛地区汉族群体15个STR基因座的遗传多态性研究.中国优生与遗传杂志,2011(7):24-26.
[15] 梁芹,张红玲,戴佳林,等.贵州省汉族群体22个STR基因座遗传多态性.中国法医学杂志,2015,30(3):307-309.
[16] 叶萍,于卫建,王颖,等.辽宁地区汉族人群4个常染色体STR基因座遗传多态性.中国法医学杂志,2008,23(3):199.