中国汉族与日本群体DYF155S1基因座的遗传多态性

目的探讨Y染色体DYF155S1基因座的遗传多态性及群体间差异.方法应用MVR-PCR、荧光显谱及DNA序列分析技术,对来自中国群体(北方汉族,64例)和日本群体(43例)男性个体的DYF155S1基因座进行初步分析.结果107例样本共检出了5种重复序列类型,包括新的命名为6型的重复序列,它是在1型的基础上T22A置换所形成,仅存在于日本群体,可作为民族特征性遗传标记.2群体重复序列的排列方式以3134顺序为主,在中国和日本群体中各占73.44%和67.44%,是黄种人的特点.134顺序在中国群体中占第二位,为17.19%,6134排列占日本群体的16.28%.3端的4型重复序列的平均数目在日本群体为8.8条,明显低于中国群体的12.5条.结论DYF155S1基因座具有非常高的遗传多态性和明显的群体差异.     

河南汉族群体DYF403S1和DYF404S1序列分析及多态性

目的调查2个新的多拷贝基因座DYF403S1和DYF404S1在240例河南汉族群体无关男性个体中的遗传多态性,评价其法医学应用价值。方法用6-FAM荧光染料标记引物,PCR扩增产物采用ABI 3500遗传分析仪检测,根据分型检测结果,分别对2个基因座的不同等位基因进行序列分析。结果 DYF403S1基因座为4拷贝,该基因座包含2种核心序列并表现出2种不同的基序,等位基因分别为23~33、38~53。DYF404S1基因座为双拷贝,等位基因为11~18。本研究中2个多拷贝基因座组成的联合单体型共229种,出现最多的单体型为26-28-29-48/14-15,频率是0.016 7,仅出现1次的单体型共220种,占91.67%。单体型多样性(HD)和个体识别力(DP)分别为0.999 6和0.995 4,单体型辨别能力(DC)为0.954 2。结论 2个多拷贝基因座DYF403S1和DYF404S1在河南汉族群体中具有较高的遗传多态性。     

DYF155S1基因座的法医学应用研究

目的探讨Y染色体小卫星DYF155S1基因座在法医学中的应用价值。方法采用荧光MVR-PCR和Amp-FLP技术。结果同一个体不同组织所获得的分型结果一致;本方法能作出正确分型的最低基因组DNA量为0.3 ng;在女性成份为男性成份100倍的混合DNA样本(总DNA量多少为110 ng)中能正确检出DYF155S1基因型;调查130个父系家庭的男性成员样品(减数分裂336次),总共发现DYF155S1基因座有3次突变,突变率为0.9%。对强奸案混合斑的分析,可直接检出DYF155S1基因型。但是,本方法只能区分哺乳类雄性动物与非哺乳类动物。结论采用荧光MVR-PCR和Amp-FLP方法分析Y染色体小卫星DYF155S1基因座,方法可靠,灵敏度高,对混合斑和微量检材中男性DNA的分析具有较高的应用价值。     

24个Y-STR基因座在云南苗族人群中的序列多态性

目的研究法医学常用Y-STR基因座在中国云南苗族男性个体中的序列多态性。方法采用M48磁珠提取纯化试剂盒提取样本DNA,使用ForenSeqTM DNA Signature Prep试剂盒制备文库,Miseq FGx平台进行测序,ForenSeq Universal Analysis v1.2.1软件进行数据分析,用Arlequin v3.5软件计算各Y-STR基因座相关的统计学参数,将Y-STR基因座长度多态性与序列多态性进行比较。结果108名云南苗族个体中共检出106种单倍型,总体单倍型多样性(HD)和Y-STR分型系统的分辨能力(DC)分别为0.9993和0.9815。24个Y-STR基因座共检出204个基因,基因多样性(gene diversity,GD)值为0.2177~0.9481,15个Y-STR基因座的GD值大于0.6。DYF387S1、DYS390、DYS389II、DYS437、DYS438、DYS448、DYS612基因座存在长度相同的基因核心序列不同的情况。结论该24个Y-STR基因座在云南苗族男性人群中具有丰富的遗传多态性。研究结果可为Y-STR数据库的建立、群体遗传学和法医学实践提供参考。     

Y染色体3个SNP基因座及其单倍型的遗传多态性和群体差异

目的 探讨人类Y染色体3个SNP基因座及其单倍型的遗传多态性和群体差异。方法 应用PCR-RFLPs结合DNA序列分析技术,对140例来自中国藏族、日本、南非黑人及南非白人男性的Y染色体M4、M9和M122基因座的等位基因进行分析。结果 全部样品M4基因座的等位基因均为野生型M4A,未发现多态性。共检出3种单倍型,黑人个体均为野生型单倍型M4A/M9C/M122T。白人个体有8例单倍型为M4A/M9G/M122T,未检出等位基因M122C。日本及中国藏族群体以单倍型M4A/M9C/M122T为主,频率分别为0.50和0.65,未检出单倍型M4A/M9C/M122C,个人识别机率与父权排除率分别为0.6191和0.4994。单倍型频率分布在中国藏族和日本群体之间存在显著性差异(P<0.01)。结论 单倍型M4A/M9G/M122C为亚洲人特征,M9和M122基因座在中国藏族和日本群体中具有较高的遗传多态性,并显示出明显的人种和群体差异。     

27个Y-STR基因座在甘肃东乡族人群的遗传多态性

目的调查27个Y-STR基因座在甘肃东乡族人群的遗传多态性,探讨其群体遗传学关系及法医学应用价值。方法应用STRtyper-27Y试剂盒检测526名甘肃东乡族无关男性个体在27个Y-STR基因座的基因分型,计算等位基因频率及单倍型多样性。同时,结合目前国内外已公开发表的其他14个群体相同基因座的遗传学资料,分析甘肃东乡族群体的遗传距离和聚类关系。结果双等位基因座DYS385a/b检出55种单倍型,DYF387S1基因座检出39种单倍型,其余23个单拷贝STR基因座分别检出4~16个等位基因,基因多样性(gene diversity,GD)值在0.453 9(DYS391)~0.957 5(DYS385a/b)。27个Y-STR基因座在526名个体中共观察到471种单倍型,单倍型多样性为0.999 5。从遗传距离分析发现,甘肃东乡族与甘肃藏族之间的遗传距离最近(0.068 2),与河南汉族(0.084 7)之间的遗传距离相对较远,基于遗传距离所构建的多维尺度分析与聚类分析结果基本相符。结论该27个Y-STR基因座在甘肃东乡族人群中具有丰富的遗传多态性,对Y染色体数据库建立、群体遗传学研究和法医学应用有重要意义。     

甘肃裕固族人群21个STR基因座的遗传多态性

正短串联重复序列(STR)在人类基因组中分布广泛、多态性高、可复合扩增,已被广泛应用于亲权鉴定、个人识别以及种族识别。由于同一STR遗传标记在不同人群中的多态性分布存在差异,因此,应用于法医学鉴定前,必须通过群体调查获得该群体的基本遗传学参数[1]。本研究对甘肃省肃南裕固族自治县裕固族无关个体的血样进行21个STR基因座的复合扩增,获得该群体21个STR基因座的遗传多态信息,     

辽宁汉族人群D6S1043和D12S391基因座遗传多态性

D6S1043染色体定位6q16.1,重复序列为（ATCT）n[1];D12S391基因座染色体定位12p13.2,重复序列为（AGAT）8-17（AGAC）6-10（AGAT）0-1[2]。本文应用PCR和PAGE等技术对D6S1043和D12S391基因座在辽宁地区汉族人群中的遗传多态性进行调查,为法医学应用提供基础数据。     

广西汉人D1S80基因座扩增片段长度多态性

<正> 在人类基因组中,存在许多具有高度多态性的可变数目重复序列(VNTR.Variable number of tandemrepeat),这类遗传标记已广泛应用于法医学、群体遗传学及器官移植等方面。本文作者调查了广西汉族人群D1S80基因座频率分布资料,报道如下。     

10个Y-STR基因座复合扩增体系建立及应用

目的建立DYF404S1a/b、DYF399S1 a/b/c、DYF403S1 a1-3/b、DYS576、DYS570、DYS627、DYS588、DYS447、DYS446、DYS449共10个Y-STR基因座的四色荧光复合扩增体系,调查河南汉族群体中的遗传多态性,评价其法医学应用价值。方法采集500名河南汉族男性个体血液样本,用6-FAM、HEX和TAMRA荧光染料分组标记10个Y-STR基因座,PCR扩增产物采用ABI3130XL遗传分析仪进行分离,Gene Mapper ID v3.2软件分型。结果采用本文方法,检测的最低基因组DNA量为0.05ng;群体调查在上述10个Y-STR基因座分别检测出8~28个等位基因,GD值在0.472 0~0.999 0范围之间,DP值在0.471 1~0.997 0之间。10个基因座所组成的单体型共观察到497种,其中仅出现1次的单体型有494种,HD值达到0.999 908 75,DC值为0.994 0。结论建立的10个Y-STR基因座荧光复合扩增体系灵敏度较高,在河南汉族群体中具有较高的遗传多态性,可以在相关研究和应用中选择使用。     

4个多拷贝RM Y-STR基因座的异常分型

目的观察湖北汉族人群中4个多拷贝RM Y-STR基因座的异常分型。方法使用文献报道及自行设计的荧光标记引物对252个无关男性个体样本进行扩增,并用AB 3130遗传分析仪对扩增产物进行检测分析。结果在所有样本中共发现25例异常多等位基因分型,其中基因座DYF387S1出现5例,DYF399S1出现15例,DYF403S1出现1例,DYF404S1出现4例。25例异常分型存在于20个样本中,发生率为7.94%,其中4个样本在两个以上基因座上均出现异常分型。结论多拷贝RM Y-STR基因座异常分型发生率较高,在法医学的实际应用中应予以注意。     

Haplotype data for the 12 RM Y-STR loci in a Syrian population

Researches with RM Y-STRs have shown that these loci provide substantially higher haplotype diversity and haplotype discrimination capacity in worldwide populations when compared with the YSTRs commonly used in genetic forensics. The aim of this study was to develop an allelic frequency database for the Syrian population living in Turkey in order to obtain population data of 12 RM Y-STRs. A total of 80 unrelated males from the Syrian population living in Turkey were typed with 12 RM Y-STRs loci: DYF387S1, DYF399S1, DYF404S1, DYS449, DYS518, DYS526a/b, DYS547, DYS570, DYS576, DYS612, DYS626 and DYS627. The highest GD was observed for the locus DYF399S1 (0.91), followed by loci DYS449 (0.86) and DYS518 (0.83). RM Y-STR haplotype diversity was found 1.00 in these samples. Based on the results of this study, the RM YSTR loci showed remarkable haplotype resolution power in the Syrian population, high genetic diversity and, therefore, demonstrating their usefulness in forensic identification cases.     

The structure, frequency, and forensic application of the STR locus D16S543 in the Japanese population

D16S543 is a complex STR locus consisting of five types of repeat units. The frequency distribution and genetic characteristics of this locus in Japanese were investigated using blood samples from 124 unrelated Japanese and 15 families. Alleles were detected using denatured polyacrylamide gels followed by automated analysis on an ABI 373 sequencer using Genescan software 672. Twenty-one alleles were identified, ranging in size from 281 to 489 bp. An allelic ladder containing the 21 alleles was constructed and used as a typing standard. The repeat unit arrays allowed the 21 alleles to be classified into three distinct groups, including alleles 1 to 7 in group I, alleles 8 to 14 in group II, and alleles 15 to 22 in group III. The alleles in group II were characterized by the insertion of one repeat unit of CAGG, one of AAAG, and three of AAGG, while the group III alleles differed from those of groups I and II by the insertion of a total of 32 repeat units ranging in 5 types. Within each group, the alleles differed from each other only in one 5' side tetranucleotide AAGG. The power of discrimination (Pd) and the estimated heterozygosity were calculated to be 0.989 and 0.934, respectively. Typing of this locus was successfully applied in four old forensic materials. The study presented herein demonstrates that D16S543 is a highly polymorphic and applicable locus in Japanese.     

Y-chromosome variation in a Norwegian population sample

Y-chromosome DNA profiles are promising tools in population genetics and forensic science. Here we present DNA profiles of 300 unrelated Y-chromosomes of Norwegian origin. The profile is composed of eight short tandem repeats (STRs) and one single nucleotide polymorphism (SNP). In more than 2/3 of the haplotypes the modular structure in the 5' end of the minisatellite locus DYF155S1 was revealed by minisatellite variant repeat PCR (MVR-PCR) These haplotypes were also typed for deletions of fragment 50f2C (DYF155S2). Allele distribution and paternity exclusion parameters are given for each marker. The degree of haplotype diversity and its implication for statistics are evaluated. In the 300 samples 177 different haplotypes were encountered, of which 137 were observed once only. Analysis showed that the main source of variation is within the population. The Fst values were less than 0.015 in general. Haplotype grouping by the SNP demonstrated two haplogroups (Tat/T and Tat/C). Haplogroup Tat/C--found in 5.7% of the present material - is the same haplogroup as encountered in 60% of Finnish males [Am. J. Hum. Genet. 62 (1998) 1171]. Mutation analysis in 150 father/son pairs (a total of 1200 meiotic events) revealed an average mutation frequency of 0.0042 (95% CI 0.0014-0.0097).     

中国汉族人群17个Y-STR基因座突变情况分析

目的 调查分析17个Y-STR基因座等位基因突变的情况.方法 收集中国汉族人群867对父子共1 649份男性血样本.采用YfilerTM复合扩增试剂盒进行17个Y-STR基因座分型,共检测出14 739次等位基因传递,统计各基因座发生等位基因突变的频率.结果 在17个基因座中发现涉及13个基因座共41次突变,其中一步突变40次(97.6％),两步突变1次(2.4％);突变共涉及40对父子,其中39对仅1个基因座发生突变(97.5％),1对同时有2个基因座发生突变(2.5％);平均突变率为2.8×10-3(95％CI 2.0～3.8×10-3).等位基因突变时获得重复单位数19次,丢失重复单位数22次,两者比例接近.结论 中国汉族人群Y-STR基因座突变可涉及多数基因座,突变率在2.8×10-3左右,在数据库的建立与应用中应重视,注意采用相关方法进行甄别.     

广州非洲籍人群15个STR基因座多态性分析

目的调查居住在广州的非洲籍人群的15个STR基因座多态性。方法应用Sinofiler TM荧光标记检测系统对122个无关个体样本进行分型检测,使用Powerstats V12、Genopop 3.4、Mega 3.4等软件进行统计计算与群体间遗传距离比较。结果居住在广州的非洲籍人群15个STR基因座的累积个体识别率为1-5.80147×10-18、累积非父排除率为1-8.6019×10-8,居住在广州的非洲籍人群与广州汉族人群遗传距离最远,与巴哈马群岛非裔混合群体间的遗传距离最近。结论该系统可满足广州地区非洲籍人群个体识别与亲权鉴定的需要,同时与广州汉族人群存在的较大统计学差异,在进行人群区分时具有重要意义。     

Evaluation of rapidly mutating Y-STRs in Pakistani population

Y-chromosomal Short Tandem Repeats have been widely used in forensic investigations, identification of males for criminal justice purpose and population genetics. Commercially available Y-STRs kits allow the identification of male pedigrees and has a limited application in forensic genetics because of its limitation in differentiating closely related male individuals. Recent research with the Rapidly Mutating Y-STRs (RM Y-STRs) have revealed that these loci deliver significantly higher discrimination capacity and haplotype diversity in worldwide populations when compared with the conventional Y-STRs. Although a number of RM Y-STRs have found their way in most updated commercial kits, there are still some loci that are not yet used in such kits. The aim of this study is to develop RM Y-STR haplotypes frequency database for the Pakistani population, in order to appraise the resolution power of these loci. A total of 212 unrelated males from the Pakistani population were typed with 13 RM Y-STRs which comprise DYF399S1, DYF387S1, DYS570, DYS576, DYS518, DYS526a + b, DYS626, DYS627, DYF403S1a + b, DYF404S1, DYS449, DYS547 and DYS612. 211 unique haplotypes were identified, out of which 1 haplotype was shared between two individuals, accounting for 0.9952 discrimination capacity (DC). Haplotype diversity was found to be 0.999925. Gene diversity (GD) values of all the loci were higher than 0.5, where the highest GD values were observed at DYF399S1, DYF403S1a and DYF404S1; with values of 0.99419, 0.98252 and 0.93061 respectively. Results of our study revealed that these 13 RM Y-STRs produced significantly stronger discriminatory power in Pakistani populations.     

中国5个群体D20S85基因座的遗传多态性

目的 了解中国5个群体D20S85基因座的群体遗传学数据,比较它们之间的遗传学差异,探讨其在法医学应用中的意义。方法 分别收集5个群体622名无关个体的血样,Chelex-100快速抽提法或饱和酚/氯仿法抽提DNA;扩增后经PAGE垂直板电泳、银染,进行D20S85基因座分型。结果 在5个群体622名无关个体中,共检出9个等位基因,并首次在广东汉族和广西壮族群体中检出等位基因14;每个群体基因频率大于0.05的均为6个,D20S85*6为最常见等位基因。5个群体共观察到35种基因型,群体内基因型频率分布均符合Hardy-Weinberg氏平衡,各群体间基因型构成比无显著性差异。观察140次减数分裂未发现突变。各群体的期望杂合度为0.7720～0.7912;非父排除率,在三联体为0.7538～0.7594,二联体为0.3988～0.4297;个人识别率为0.9175～0,9272;多态信息含量为0.7442～0.7656。应用于亲子鉴定和个人识别案例,效果满意。结论 D20S85基因座是法医学应用价值较高的遗传标记系统。     

TPOX基因座三个基因的检出及遗传多态性分析

研究 2个群体TPOX基因座遗传多态性及变异。应用PCR扩增、变性聚丙稀酰胺凝胶电泳结合银染技术对TPOX基因座进行检测。在 10 0例中国北方汉族及 93例南非两群体中各检出 7个等位基因 ,个人识别机率与非父排除率分别为 0 7978、 0 46 2 5和 0 914 1、 0 6 12 5。基因型频率分布符合Hardy Weinberg平衡。群体间比较结果显示 ,TPOX基因座存在明显的人种差别。另外 ,在 2个南非黑人个体中 ,各自检出了 3种TPOX基因片段 ,序列分析证实 ,它们在由特异性引物所限定的DNA片段区域内 ,除核心序列重复次数的差别外 ,其余序列完全相同。推测其是由染色体不等交换形成嵌合体所致。研究结果表明 :TPOX基因座属较高鉴别能力遗传标记 ,在法医学及人类遗传学研究中具有重要意义