Chinese Journal of Forensic Sciences,2021，N%.1Total N$.114
H定科学
Forensic Science
云南壮族人15个STR基因座遗传多态性
贾儒林，辛卩％，单迪
(中国刑事警察学院法医学系，辽宁沈阳110854)
摘要：目的对600个云南壮族人15个常染体短串联重复(short tandem repeat,STR)序列基因座的遗传多态性进行调查，探讨云南壮族体遗传学特性及在法医学中的应用价值%方法使用AmpFLSTR®Identifier!Direct PCR 扩增试剂盒对此地区600名壮族无关个体血样DNA进行PCR扩增，采用Modified Powerstats软件计算等位基因频率及法医学参数(观察杂合度、期望杂合度、个体识别率、多态信息含量)，应用Arlequin3.5软件检验各基因座Hardy-Weinberg平衡及连锁不平衡，再比较其他体的遗传距离%结果云南壮族各基因座个体识别能力(DP)值分布在0.7790〜0.9744之间，累计个体识别概率(CDP)达到0.99999999999999999156，非父排除率值范围在0.2869〜0.7213，云南壮族与贵州布依族、贵州侗族、广西毛南族、广西松佬族遗传距离比较接近％结论该试剂盒的15个STR基因座在云南壮
族人中具有高度的多态性，可供法医学个体识别和亲权鉴定，亦可为体遗传学种族迁徙、语言学语言分区分、学探基性数%
关键词：法医遗传学'遗传多态性；STR；云南壮族
中图分类号：DF795.4文献标志码：A doi:10.3969/j.issn.1671-2072.2021.01.008
文章编号：1671-2072-(2021)1-0060-05
Genetic Polymorphism of15Autosomal STR Loci in the Zhuang Ethnic Minority
dna多态性from Yunnan Province・
JIA Rulin,XIN Yang,SHAN Di
(Department of Forensic Medicine,Criminal Investigation Police University of China,Shenyang110854,China) Abstract：Objective To investigate the genetic polymorphisms of15short tandem repeat(STR)loci in600Yunnan Zhuang population,and to explore the genetic characteristics of Zhuang population in Yunnan and its application value in forensic science.Methods AmpFLSTR!Identifiler!Direct PCR Amplification Kit was used for PCR amplification of blood samples fr
om600Zhuang-independent individuals in this region.Allele frequencies and forensic parameters(observation of heterozygosity,expected heterozygosity,individual identification Rate,polymorphic information content)were calculated using Modified Powerstats software,using Arlequin3.5software to test the Hardy-Weinberg equilibrium and linkage disequilibrium of each locus,and then compare the genetic distance of other groups.Results The discriminative power(DP)values of various Zyx loci in Yunnan were distributed between0.7790and0.9744.The cumulative individual recognition probability(CDP)reached0.99999999999999999156.The non-parent exclusion rate ranged from0.2869to0.7213.The genetic distance between Yunnan Zhuang and Guizhou Buyi,Guizhou Yi,Guangxi Maonan and Guangxi Dai is relatively close.Conclusion The15STR loci of this kit are highly polymorphic in Yunnan Zhuang population,which can be used for forensic identification and paternity identification.It can also be used for group genetics ethnic migration,linguistic branching,and sociological customs.whice can Provide basic research data.
Keywords：forensic genetics;genetic polymorphism;STR;Yunnan Zhuang
DNA指纹技术，又称为DNA分型技术，它的诞生使法医工作者仅仅根据一个人的体液就能进行个体识别，具有划时代的意义，摆脱了以往依赖于
收稿日期：2018-12-28
作者简介：贾儒林(1988-)，男，助理实验员，主要从事法医检验及鉴定工作&E-mail：****************。血清酶型、血型和HLA等技术进行个体识别而无法做出肯定结论的尴尬局面&随着现代分子生物技术的快速发展，短串联重复序列(short tandem repeat, STR)分型技术的一个时代的标点，直
动了DNA犯罪信息数据库的发展&每年就有数以万计的DNA鉴定结论被法庭，在打击犯罪中
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发挥着越来越重要的作用#此外，STR具有很高的突变率，对于亲缘关系较近的体来说，STR基因座可以提供可靠的遗传信息#STR的遗传变异不仅会影响法医分型判断和结论的正确性，也为体遗传学提供了研究模型#因此，常染体上的STR位点被广泛的运用于人类体遗传学研究中。
本文对云南壮族人15个常染体STR基因座的遗传多态性，为法医学个体识别、亲权鉴定以及体遗传学研究提供基#
1材料与方法
1.1样品来源
壮族56个民族之一#壮族在中国的31个省、自治区、直辖市中有分，要聚居在南方，广东省壮族瑶族自治县，西至云南省文山壮族苗族自治州，省南苗族族自治，南。据2010年人口普查，该民族有1618万人口。壮族主要分布在西南部(1)，其中广西壮族自治区占87.77%，云南省占7.07%，广东省占3.52%，贵州省占0.32%，湖南省占0.31%。壮族有本民族的语言——壮语，属系壮族壮傣语支#1955年，党和人：
壮族人了一以为基的文—
—壮文叫
，云南区壮族关性个体血滤纸样本600。
(红"区域为本研样区域，+占-族人
01237.07%#)
图1壮族人分布图1.2DNA提取、扩增及检测
采用打孔器取1.2mm直径血滤纸各1片。
使用AmpFLSTR®Identifiler®Direct PCR扩增试剂盒("在GeneAmp9700型扩增()上#总体系为10“L，内含
5p,L master mix及5“L引物组。热循环条件为95#变性11min，(94#20s，59#2min，72#1min)26个循环，60#延伸25min，4#保温#取1^L PCR产物与8.7^L去离子甲酰胺、0.3|!L内标GeneScan500LIZ混匀#95#变性3min 后，立即冰浴3min。采用ABI3130x1遗传分析仪()电泳分离。电泳参数:HID Fragment Analysis36_POP4_1模式----3kV10s进样，15kV60#POP®-4polymer电泳。按Dye Set E5模式收集处理五荧光。
使用GeneMapper ID v3.2软件(美国赛默飞公司)基因分型。等位基因峰高阈值设置为50RFUs。严格遵守际法庭科学遗传学会(International Society for Forensic Genetics，ISFG)指南进行DNA多态性分析及命名。男性标准品DNA007和女性标准品DNA9947A(美国赛默飞公司)作为质控的阳性对照，双蒸水作为阴性对照。
1.3统计学处理
采用Modified Powerstats软件02吩别计算15个STR基因座的等位基因频率(allele frequency，AF)%匹配概率(matching probability，Pm)%个体识别能力(discrimination power，DP)%多态性信息含量(polymorphism information content，PIC)、非父排除率(power of exclusion,PE)、亲权指数(paternity index，PI)、观测值杂合度(observed heterozygosity，Ho)及哈迪温伯格平衡(Hardy-Weinberg equilibrium，HWE)检验等。使用Arlequin3.5软件分比较15个STR 基因座的体遗传距离。
2结果与讨论
云南地区壮族600个样本15个STR基因座体遗传学参数和等位基因频率见表1~2。
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Chinese Journal of Forensic Sciences,2021，N%.1Total N$.114
表1云南壮族人15个常染体STR基因座体遗传学参数/“小
(n=600)等位基因Pm DP PIC PE PI He P D8S1179100.03990.96010.6655 3.03030.83550.83500.1859 D21S11130.05390.94610.6753 3.12500.80200.84000.3199 D18S51160.03790.96210.7213 3.65850.83890.86330.6023 /0A70.07460.92540.5776 2.36220.75940.78830.8587 D3S135880.12760.87240.4956 1.93550.67900.74170.4960 FGA180.02560.97440.7213 3.65850.87140.86330.1232 TH0170.14830.85170.4386 1.70450.64350.70670.4636 D5S818100.09380.90620.6115 2.58620.73450.80670.0357 D13S31780.07330.92670.5476 2.18980.76010.77170.2315 D7S82090.09310.90690.5212 2.05480.72480.75670.9289 CSF1P080.11940.88060.4762 1.85190.68180.73000.8873 D16S53990.09380.90620.5745 2.34380.72820.78670.2519 TP0X60.22100.77900.2869 1.23970.53830.59670.9648 D2S1338120.03680.96320.6720 3.09280.84330.83830.1356 D19S433160.04910.95090.6655 3.03030.81350.83500.9414
该人15个STR基因座共检出157个等位基因，其基因频率分布在0.0008-0.5592之间。除D5S818外，
各基因座基因型观察值与期望值经x2检验，均符合Hardy-Weinberg平衡('>0.05$%FGA 为高多态性基因座(PIC!0.85$；D8S1179、D21S11、D18S51、iWA、D5S818、D13S317、D7S820、D16S539、D2S1338和D19S433为中高度多态性基因座(PIC !0.70$；D3S1358、TH01、CSF1PO和TP0X四个基因座识别能力稍差％
由表1可见，云南地区壮族人15个STR基因座的Ho值分布在0.5967-0.8633之间，Pm值在0.0256-0.2210之间，累计随机匹配概率(CMP)达到&44'10-18,DP值分布在0.7790-0.9744之间，累
计个体识别概率(CDP)达到0.999999999999999 99156,PE值范围在0.2869-0.7213之间，累计非父排除率(CPE)达到0.99982014%该扩增系统在云南地区壮族人的法医学个体识别、亲子鉴定中有高的值%
云南壮族人与11个国家或地区人的15个基因座比较结果，经过Bonferroni矫正显：与韩国人冈和日本人国在14个基因座上具有显著的统计学差异'<0.0033)；与云南哈尼族同和纳西族问在13个基因座上具有差异；与云南族M7N在11个基因座上具有差异；与云南族冏在9个基因座上具有差异；与云南族问在8个基因座上具有差异；与贵州布族㈣和族［11］在2个基因座上具有差异；与广南族M12N和族M12N未发现具有著的统计学差异％察，为上体的差异与系有一定的问。云南壮族与布依族、贵州侗族、广西毛南族、族遗传
近，四均系壮族；云南白族、哈尼族、纳西族、藏族、彝族，五者均系族％上表，云南壮族与各民族之
间的系符合地域及语系的分布%
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表2云南壮族人15个S%R基因座等位基因及其频率分3go。）D3S1358TH01D5S818D13S317D19S433 $F$F$F$F$F 120.001760.095870.032570.004250.0476 130.002570.322580.000880.310090.0127 140.028380.054290.054290.1542100.0451 150.290890.4325100.2000100.1692110.2037 160.32009.30.0400110.3283110.2167120.0996 170.2808100.0542120.2517120.1142130.0723 180.0675110.0008130.1217130.0250140.0863 190.0083140.0092140.006714.20.0006
150.0008150.0717
160.0008160.0730 D8S1179CSF1P0D7S820vWA170.0666 $F$F$F$F180.0590
90.000870.012560.0008140.297518.40.0006
100.185090.027570.0033150.0275190.0489 110.1175100.244280.1592160.1175200.0444 120.13081
10.235090.0558170.2283210.0260 130.1700120.3892100.1633180.2050220.0197 140.1508130.0758110.3917190.1092230.0133 150.1575140.0150120.1792200.0150240.0057 160.0692150.0008130.0417250.0025 170.0158140.0050270.0006 180.0025
TPOX D21S11D18S51FGA D2S1338 $F$F$F$F$F
70.0008270.0008100.0017160.0008160.0175
80.5592280.0500110.0050180.0325170.0850
90.1158290.2625120.0608190.1050180.0650
100.0283300.2458130.1417200.0533190.2058 110.275030.20.0133140.1842210.1558200.0983 120.0208310.1042150.215821.20.0042210.0367
31.20.0875160.1775220.1467220.0542
D16S539320.0317170.065822.20.0150230.1942 $F32.20.1508180.0433230.1642240.1808
60.0008330.0042190.045023.20.0067250.0517
80.004233.20.0425200.0175240.1433260.0075
90.228334.20.0050210.015824.20.0233270.0033
100.095035.20.0017220.0133250.0783
110.2983230.004225.20.0058
120.2758240.0075260.0408
130.0858250.000826.20.0025
140.0108270.0175
150.0008280.0042
注：A：等位基因；F：基因频率
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Chinese Journal of Forensic Sciences,2021，N%.1Total N$.114
3结论
云南壮族各基因座个体识别能力(DP)值分布在0.7790-0.9744之间，累计个体识别概率(CDP)达到0.99999999999999999156，非父排除率值范围在0.2869-0.7213，云南壮族与贵州布依族、贵州侗族、广西毛南族、广西J佬族遗传距离比较接近%该试剂盒的15个STR基因座在云南壮族人中具有高度的多态性，可供法医学个体识别和亲权鉴定，亦可为体遗传学种族迁徙、语言学语言分支区分、社会学风俗探究等提供基础性究％
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(本文编辑：李成涛)
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