江西汉族人群15个常染色体STR位点的遗传多态性

本文采用Amp FISTR~?Identifiler试剂盒对3500例江西九江地区无血缘关系汉族个体检测15个常染色体STR位点的遗传多态性。实验发现15个STR位点基因型分布均符合Hardy-Weinberg平衡,DP值介于0.9671(D2S1338)~0.7873(TPOX),PE值介于0.7326(D2S1338)~0.3022(TPOX),He介于0.8690(D2S1338)~0.6093(TPOX),在法医学个体识别和亲缘鉴定中具有较高的应用价值。     

国内外“DNA数据库”遗传学标志的比较研究

目的通过英、美、中"DNA数据库"遗传学标志的比较,探寻我国大规模建库宜用的STR位点.方法用复合PCR扩增和四色荧光技术对我国汉族群体进行基因型检测,获得D2S1338、D19S433、CODIS等15个STR位点的多态性分布资料,并结合目前国内外法医学者报道的其它STR位点进行比较分析.结果Profiler Plus试剂盒中的STR位点和D16S539、D2S1 338、D19S433、Penta D、Penta E任中国人群中有重要应用价值.结论为便于建立DNA实验室技术标准和质控标准,提倡开发和使用适合我国人群的商品化STR检测试剂盒.     

湖南汉族人群21个STR基因座的遗传多态性(英文)

目的调查湖南地区汉族人群21个STR基因座(D3S1358、D13S317、D7S820、D16S539、Penta E、D2S441、TPOX、TH01、D2S1338、CSF1PO、Penta D、D10S1248、D19S433、v WA、D21S11、D18S51、D6S1043、D8S1179、D5S818、D12S391和FGA)的遗传多态性。方法共采集560例湖南汉族健康无关个体血液样本,使用Chelex-100法提取DNA,应用AGCU EX22试剂盒及9700 PCR扩增仪进行复合扩增,扩增产物使用310遗传分析仪进行分离分析。结果共发现248个等位基因,等位基因频率分布在0.001~0.518。除Penta E(P=0.023)外,其余基因座的基因型分布均符合Hardy-Weinberg平衡。21个基因座的累积个人识别率、累积非父排除率、累积匹配率分别为0.999 999 999 999 999 999 999 999 8、0.999 999 998和1.36×10-25。结论 21个STR基因座在湖南汉族人群中呈高度多态性。本研究可为法医学个人识别及亲子鉴定提供有价值的数据及理论基础。     

北京地区汉族人群Penta B、E、C基因座遗传多态性

微卫星(STR)基因座常根据串联重复单元的核苷酸数进行分类。其中五核苷酸重复序列(Pentanucleotide)是指串联重复单元为五核苷酸的STR基因座,其结构比四核苷酸重复序列更加稳定[1]。四核苷酸序列基因座是法医DNA分析最常用的基因座,而五核苷酸序列基因座在当前法医学所采用的商品化的试剂盒中仅有Penta E、Penta D(Promega,USA),所以存在很大的研究空间。本文选取Penta B、Penta E和Penta C(基因座信息见表1)三个STR基因座,在北京地区汉族人群中,随机抽取203名无关个体进行多态性调查。表1 Penta B、E、C基因座信息基因座基因…     

1066例新疆汉族人群21个常染色体STR基因座遗传多态性分析

目的研究21个常染色体STR基因座(CSF1PO,D3S1358,D5S818,D7S820,D8S1179,D13S317,D16S539,D18S51,D21S11,FGA,TH01,VWA,D2S1338,D19S433,D1S1656,D12S391,D2S441,D10S1248,TPOX,D22S1045,SE33)在新疆汉族人群中的遗传多态性。方法用GlobalFiler^TM R PCR Amplification荧光标记试剂盒对1066例新疆汉族无关个体的DNA进行PCR扩增,3500遗传分析仪电泳分析,用GeneMapper■ID-X v1.4软件分析等位基因片段大小,用Modified-Powerstates和Arlequin v3.5分析软件进行等位基因频率和法医学常用参数统计分析。结果在新疆汉族人群中,21个常染色体STR基因座不存在连锁不平衡现象,基因型分布符合Hardy–Weinberg平衡,共检出282个等位基因和1147种基因型,杂合度期望值(He)范围从0.6291(TPOX)到0.9428(SE33),多态信息含量(PIC)范围从0.5648(TPOX)到0.9393(SE33),累计个体识别率(CDP)>0.99999999999999999999。结论新疆汉族人群21个常染色体STR基因座具有较高多态性,可以用于法医学亲权鉴定和个体识别,也可以用于人类学和遗传学研究。     

河南汉族群体20个常用STR基因座突变分析

目的观察20个常染色体STR基因座突变在河南汉族人群中的分布情况。方法从3011例确认亲子关系的亲子鉴定案例中筛查基因突变事件,确定突变来源,统计各STR基因座的突变率,分析突变规律并与部分不同地区的人群STR基因座突变情况进行比较分析。结果在20个STR基因座中观察到19个基因座的发生的76次突变事件,平均突变率为0.08%累计突变率达到1.662 9%;父、母源性突变的比率大致为8:1;河南汉族人群在Penta E和D12S391基因座突变率明显低于北方汉族人群(P0.05);在D6S1043、CSF1PO和D12S391基因座突变率明显低于广东人群(P0.05);在CSF1PO基因座突变率明显低于云南汉族人群(P0.05)。结论 STR基因座突变现象较为常见,不同基因座的突变率存在着明显的地区差异。     

江西汉族人群D2S1338、TPOX、TH01基因座多态性

本文采用Amp-FLP技术和银染法对D2S1338、TPOX、TH013个STR基因座遗传多态性进行了调查,现报道如下。1材料与方法1.1样本的采集及处理随机采集220人份江西地区汉族人群无血缘关系的个体静脉全血1m l,ACD抗凝。1.2 PCR扩增及产物的检测采用多位点STR同步扩增法,采用聚丙烯酰胺凝胶DNA电泳和银染法[1]。1.3统计学处理用χ2检验判断各位点的基因型分布是否符合Hardy-W einberg平衡法则,计算期望杂合度(H)、个体识别率(DP)和多态性信息含量(PIC值)[2]。2结果D2S1338共检出等位基因12个,基因频率分布在0.0023~0.1758之间;TPOX共…     

中国汉族人群15个STR基因座的等位基因频率调查

目的 调查10071名中国汉族无关个体15个STR基因座的等位基因的类型及其频率，并与以往相关文献报道的汉族群体资料进行统计比较。方法 应用PowerPlex~(TM)16荧光标记复合扩增系统，对10071份中国汉族无关个体的血样DNA进行15个STR基因座的复合扩增；用ABI 377或3100遗传分析仪对扩增产物进行分型，统计15个STR基因座的基因频率。结果 15个STR基因座共发现226个等位基因，频率在0.0001～0.5512；除D8S1179基因座外，其它基因座均发现稀有等位基因，数目1～7个不等，共34个。在中国汉族人群，稀有D21S11基因座的等位基因32.1和36.2，D18S51基因座的等位基因15.2和17.2，Penta E基因座的等位基因15.2、17.4、18.4、19.4、26和27，D7S820基因座的等位基因9.2、10.1、11.1和15，Penta D基因座的等位基因18、19和20，TPOX基因座的等位基因14，FGA基因座的等位基因13，以及较常见但欧洲稀有的D21S11基因座的等位基因30.3和D7S820基因座的等位基因9.1和9.2等均为首次报道。结论 大样本基因频率调查有利于观察STR基因座的稀有等位基因；本研究结果与以往相关文献报道的结果有不同程度的差异。     

PowerPlex~(TM) 16体系在中国人群中罕见等位基因及其类型

目的 分析PowerPlexTM 16体系基因座在中国人群中的罕见等位基因及其类型。方法 应用PCR-STR和DNA序列分析技术,对4650个无关个体在15个STR基因座中的罕见等位基因进行检测。结果 在PowerPlexTM16体系中的D7S820、D16S539、Penta E基因座,检测到2种类型的罕见等位基因,而TH01、D21S11、D5S818、D13S317、Penta D、D8S1179、TPOX、FGA基因座检测出1种类型。其等位基因频率均较低(0.215‰-7.097‰)。结论 超出ladder范围的罕见等位基因序列比相邻等位基因增加(或减少)1个或数个重复单位,因碱基的插入或缺失的罕见等位基因出现在两等位基因之间。     

贵州汉族19个STR基因座多态性及法医学应用

目的调查19个常染色体STR基因座在贵州汉族人群中的等位基因分布,评估其在法医学中的应用价值。方法应用Goldeneye~(TM) DNA身份鉴定系统20A试剂盒,研究贵州520名汉族无关健康个体19个常染色体STR基因座多态性。用310型遗传分析仪进行毛细管电泳,Gene Mapper~ID v3.1进行基因分型。结果 19个常染色体STR基因座的杂合度为0.603 8~0.916 4,个体识别率为0.790 0~0.985 6,非父排除率为0.295 5~0.826 9,多态信息含量为0.553 5~0.908 9,累积个体识别率为1-1.230 0×10~(-22),累积非父排除率为0.999 999 99。贵州汉族和其他五个地域的汉族两两之间等位基因频率比较,仅贵州汉族与山东汉族、辽宁汉族、山西汉族之间存在基因频率差异具有统计学意义。结论 D19S433等19个常染色体STR基因座在贵州汉族人群中具有良好的遗传多态性,对群体遗传学和法医物证学研究有应用价值。     

云南玉溪汉族15个STR基因座多态性及遗传关系分析

目的调查玉溪汉族人群15个STR基因座的遗传多态性,并分析与国内部分地区汉族群体的遗传关系。方法采用AmpFLSTR Identifiler试剂盒,复合扩增15个STR基因座,计算基因频率及法医学参数;收集国内其他10个群体的遗传学资料进行遗传距离和聚类分析。结果玉溪汉族群体15个STR基因座等位基因及基因型分布符合Hardy-Weinberg平衡定律,PD值在0.790 6～0.968 1之间,PE值在0.315 9～0.733 5之间,PIC值在0.554 6～0.856 4之间,15个基因座累积个体识别力为0.999 999 999 999 999 99,累积非父排除率为0.999 998。不同地区汉族群体间遗传距离分析提示,玉溪汉族与成都汉族遗传距离最近(0.004 0),其次是河南(0.004 5)和潮汕(0.004 7);内蒙古最远(0.036 1)。结论云南玉溪汉族15个STR基因座具有较高的遗传多态性,适于该群体的法医学应用,遗传关系分析结果可为该群体的起源、迁徙及与其他群体的遗传关系分析提供参考。     

Population genetics data of 23 autosomal STR loci for three Populations in United Arab Emirates

In the present study, forensic parameters were estimated for three populations residing in the United Arab Emirates (UAE) including UAE Arabs, Pakistanis and Indians based on the population data of 23 autosomal short tandem repeats (STRs). The UAE Arabs is a vital population to study due to high rates of consanguineous marriages. Therefore, it is essential to estimate the allele distribution and frequencies within this population. In addition, it is crucial to study the largest communities living in the UAE such as Indians and Pakistanis. A total of 1272 blood samples were collected on FTA® cards, comprising of 571 UAE Arabs, 352 Indians and 349 Pakistanis. All of these samples were amplified directly using Verifiler® Express PCR Amplification Kit that focuses on 23 autosomal STR loci, namely D3S1358, vWA, D16S539, CSF1PO, TPOX, D8S1179, D21S11, D18S51, D2S441, D19S433, TH01, FGA, D22S1045, D5S818, D13S317, D7S820, D10S1248, D1S1656, D12S391, D2S1338, D6S1043, Penta D and Penta E loci. The PCR products were electrophoresed on ABI 3500 Genetic Analyzer and analyzed using GeneMapper ID-X v1.4 software. Arlequin v3.5 and PowerStats software were utilized to determine the forensic parameters and population structure using AMOVA. Gene diversity, ranged from 0.67406 (TPOX) to 0.9226 (Penta E) in the UAE Arabs, 0.69955 (TPOX) to 0.9214 (Penta E) in Indian and 0.69853 (TPOX) to 0.921 (Penta E) in Pakistani population. The most discriminating autosomal STR loci observed was Penta E (PD = 0.985), (PD = 0.986), (PD = 0.986) in the UAE Arabs, Indian and Pakistani population, respectively. The obtained results showed the 23 STR loci had a relatively high genetic variation, confirming the suitability for forensic identification and kinship analysis, in the relevant populations. The significance of this study is to build an allelic frequency database for one of the most powerful commercially available STR amplification kits by using the current forensic workflow.     

Evaluation of population variation at 17 autosomal STR and 16 Y-STR haplotype loci in Croatians

Seventeen autosomal STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818, FGA, Penta E and Penta D) and 16 Y-STR haplotype loci (DYS19, DYS385, DYS389I, DYS398II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and GATA H4.1) were analyzed in the sample of 200 unrelated Croatians. The agreement with HWE was confirmed for all autosomal STR loci. The combined power of discrimination (PD) and the combined power of exclusion (PE) for the 17 autosomal STR loci were 0.999999999999999999682299331476 and 0.99999995, respectively. Penta E proved to be the most informative autosomal STR locus. Among 200 Croatian males, 197 Y-STR haplotypes were identified and haplotype diversity was estimated at 0.9998 ± 0.0005.     

单亲鉴定案例STR选择探讨和PI值计算方法评价

作者对STR位点的个体识别能力(DP)、杂合度(H)、非父排除率(PE)、多态信息含量(PIC)等进行统计学分析,探寻了适合中国人群单亲子鉴定、且有利于国内外DNA实验室数据交流的STR位点,并对现行的PI值计算方法进行了评价。     

6个五核苷酸STR基因座荧光复合扩增体系的建立

目的 构建6个五核苷酸STR基因座荧光复合扩增体系。方法筛选6个多态性程度较高的五核苷酸STR基因座D10S2325、Penta B、Penta W、PentaX、Penta D和PentaE,按照复合扩增引物设计要求,重新设计引物并标记荧光染料,经反复调整和优化,构建6基因座荧光复合扩增体系,并用该复合扩增体系对239名武汉汉族无关个体进行分型。结果6个五核苷酸STR基因座荧光复合扩增体系分型稳定,可重复性好,与各自相应单基因座分型结果完全一致;累积个人识别率达0．999999988,累积非父排除率达0．998063807。结论本文构建的6个五核苷酸STR基因座荧光复合扩增体系具有很高的法医学实用价值,可作为商品化试剂盒的有效补充。     

Genetic diversity at two pentanucleotide STR and thirteen tetranucleotide STR loci by multiplex PCR in four predominant population groups of central India

Genetic diversity study at STR loci in 208 individuals belonging to two backward groups, one caste and one tribal community of Central India called "Chhattisgarh" has been carried out to evaluate significance of Powerplex System loci in human identification and population diversity. Populations are Agharia (72), Satmani (50), Dheria Gond (36) and Teli (50). Fifteen loci (Powerplex 16 Kit) studied are Penta E, D18S51, D21S11, THO1, D3S1358, FGA, TPOX, D8S1179, vWA, Amelogenin, Penta D, CSF1PO, D16S539, D7S820, D13S317 and D5S818. The studied penta nucleotide STR (two) and 13 tetranucleotide (CODIS ) STR are found to be highly polymorphic genetic markers in all studied populations. Most common allele for the four studied population has been found to be same at THO1 (allele 9), D8S1179 (allele 14), CSF1PO (allele 12), Penta E (allele 11) and D16S539 (allele 11). Penta E is found to be most polymorphic (PD=0.89373) among studied 15 STR loci in four populations of Central India.     

Distribution of alleles of 15 STR loci of the Powerplex 16 Multiplex system in four predominant population groups of South India

Allele distribution of the 15 STR loci of Powerplex 16 Multiplex System were studied in four predominant population groups of South India for evaluating their significance in human identification and population study: Iyengar Brahmin (65), Gowda (59), Lingayat (98) and Muslim (45) from the state of Karnataka. The loci analyzed are--D3S1358, THOI, D2ISI I, D18S51, D5S818, Penta E, D13S317, D7S820, D16S539, CSFIPO, Penta D, vWA, D8S179, TPOX and FGA. Out of 15 STR loci Penta D and D18S51 were found highly polymorphic in the studied populations.