河南汉族人群27个Y-STR基因座的突变观察与分析

目的观察分析河南汉族人群中27个Y-STR基因座的突变情况。方法收集1 000对经常染色体STR检测确定父子关系的血样本,采用STRtyper-27Y系统扩增27个Y-STR基因座分型,统计各基因座发生突变次数和类型,计算突变率以及95%CI(可信区间)。结果 27个基因座中共有27 000次等位基因传递,共发现涉及24个基因座共92次突变,平均突变率(95%CI)为3.4×10-3(2.7~4.2×10-3),其中一步突变90次(97.8%),两步突变2次(2.2%);突变共涉及89对父子,其中86对仅1个基因座发生突变(96.6%),3对同时有2个基因座发生突变(3.4%)。等位基因增加突变与等位基因减少突变分别为43次和49次,两者比例为1∶1.14。结论河南汉族人群Y-STR基因座突变可涉及基因座较多,因此在数据库建设与日常检案中应注意防止错判。     

30个Y-STR基因座在中国汉族人群中的多态性与突变

目的调查30个Y-STR基因座在中国汉族男性人群中的遗传多态性和突变情况,研究其法医学应用效能。方法应用自行建立的30个Y-STR基因座检测系统对中国汉族人群1 005名男性无关个体和1 008对父子(1 949人)的血样进行Y-STR分型,统计各基因座的群体遗传学参数与突变情况。结果1 005名中国汉族男性无关个体共检出983种单倍型,其中963种仅检出1次,总体单倍型多样性(HD)和识别能力(DC)分别为0.999 955和0.978 109。30个Y-STR基因座共检出340个等位基因,基因多样性(GD)为0.410 3~0.952 3,24个基因座GD值大于0.6。1 008对父子共有30 269次等位基因传递,68对父子仅1个基因座发生突变,3对父子的突变同时发生在2个基因座上。在71对父子间涉及的26个基因座中观察到74次突变,平均突变率为2.4×10~(-3)[95%CI为(1.9×10~(-3),3.1×10~(-3))],其中一步突变73次(98.6%),两步突变1次(1.4%)。结论该30个Y-STR基因座复合扩增体系在中国汉族男性人群中具有较高的遗传多态性及较低的突变率,在Y-STR数据库建设和群体遗传学研究中具有重要价值。     

中国汉族人群46个Y-STR基因座多态性与突变调查

目的调查分析46个Y-STR基因座在中国汉族人群中的遗传多态性与突变情况。方法收集中国汉族人群1 008名无关男性个体、1 124对父子共2 165份男性血样。采用Yfiler PlusTM、AGCU Y-24、GFS 24Y 3种复合扩增试剂盒进行46个Y-STR基因座分型,统计各基因座群体遗传学参数与突变情况。结果 1 008名中国汉族无关男性个体,共检出1 001种单倍型,其中994种仅出现1次,总体单倍型多样性值(HD)和识别能力(DC)分别为0.999 986和0.993 1。46个基因座共检出548个等位基因,基因多样性值(GD)在0.432 0~0.953 2之间,37个基因座GD值大于0.6。1 124对父子共检测出51 739次等位基因传递,193对父子41个基因座共观察到214次突变,平均突变率为4.1×10-3(95%CI 3.6~4.7×10-3)。其中一步突变209次(97.7%),两步突变5次(2.3%);175对仅1个基因座发生突变(90.7%)。结论本文46个Y-STR基因座中大多数在中国汉族人群中具有较高的遗传多态性,适合法医学应用,高突变率基因座在Y-STR数据库家系查询与父系鉴定应用中应予以关注。     

中国汉族人群41个STR基因座突变情况的观察分析

目的调查41个STR基因座在中国汉族人群中的突变情况。方法收集1 932个三联体家系4 546份血样本,采用AGCU_21+1、AGCU_EX22、Global Filer_Express~(TM)系统扩增41个STR基因座分型,统计各基因座发生突变的频率。结果 150个三联体在32个基因座共观察到154次突变,平均突变率为1.0×10~(-3)(95%CI:0.8~1.1×10~(-3)),突变率最高的是基因座SE33。其中一步突变152次(98.7%),两步突变2次(1.3%);146个三联体仅1个基因座发生突变(97.3%),4个三联体在2个基因座发生突变(2.7%);父、母来源突变比率约为4.7:1。结论 STR基因座等位基因突变现象较为常见,亲子鉴定时应引起注意。     

15个STR基因座的突变观察和分析

目的调查15个STR基因座的突变情况。方法采集817例亲子鉴定的2722份血样本,采用Identi—filerTM系统扩增15个STR基因座分型,共有33060次等位基因传递,统计各基因座发生突变的频率。结果在15个基因座中发现涉及11个基因座共25次突变,平均突变率为0．8×101（95％C10．5—1．1×10-3）,其中一步突变20次,两步突变3次,三步突变2次;父、母来源突变比率为2．6：1,不能确定来源突变7次。结论STR基因座等位基因在IdentifilerTM复合扩增系统突变现象较为常见,亲子鉴定时应引起注意。     

湖北地区汉族人群24个 Y-STR基因座遗传多态性研究

目的 对湖北汉族人群24个Y-STR基因座多态性进行调查,并获得相关的基础遗传学数据.方法 应用AGCU Y24 STR荧光标记复合直接扩增系统及3130XL型DNA测序仪,对湖北地区320对已确定父子关系的640个男性个体血样进行24个Y-STR检测分型.结果 在320名父亲男性个体中,在DYS391、DYS389工、DYS439、DYS389Ⅱ、DYS438、DYS449、DYS456、DYS458、DYS437、DYS635、DYS448、Y-GATA-H4、DYS447、DYS19、DYS392、DYS522、DYS393、DYS388、DYS390、DYS444基因座在湖北地区汉族人群分别检出4～17个等位基因,DYS527a/b检出45个等位基因组,DYS385a/b检出57个等位基因组,各基因座基因多样性最低为0.3838,最高为0.9650;并检出320种单倍型.比对320对父子Y-STR分型,在7680次基因遗传传递中,在DYS449、DYS527、DYS444、DYS389Ⅱ、DYS447、DYS522、DYS385、Y-GATA-H4等10个基因座中检出16个突变,突变率为1.5625‰～1.5653％,平均突变率为2.0833‰;等位基因增加突变与等位基因减少突变比为1∶1.结论 24个基因座单倍型在湖北地区汉族人群中具有丰富的遗传多态性,其数据对法医学应用、Y-STR数据库建设和群体遗传学等研究应用具有重要意义.     

STRtyper-10G系统9个STR基因座突变分析

目的观察和分析STRtyper-10G系统9个STR基因座的突变特点。方法在7 707例肯定亲子关系的案件中,统计使用STRtyper-10G试剂盒（9个STR基因座）检测发现的突变事件,判断突变等位基因的来源,计算各基因座的突变率,分析突变特点。结果在9个基因座上共发现118个突变事件,均为1步突变;平均突变率为1.69×10-3（95%CI 1.40×10-3~2.03×10-3）,各基因座的突变率介于0.78×10-3~2.84×10-3,父、母来源突变比例为9.64∶1;短、中、长等位基因的突变比值约为1∶8∶3,增加和减少重复单位的突变比值为1.29∶1。结论 9个基因座的突变率存在显著差异,实际检案时应结合各基因座的突变率进行PI值计算更为科学。     

广东汉族群体24个Y-STR基因座的多态性及突变率

目的调查24个Y-STR基因座在广东汉族群体中的遗传多态性和突变现象。方法收集800对经常染色体STR检验确定父子关系的血滤纸样本,用于突变现象观察;其中父亲样本视为无关个体,用于多态性调查。采用GFS 24Y荧光标记复合扩增体系进行扩增及Y-STR分型,并对分型结果进行相关统计分析。结果 800名广东汉族男性无关个体在24个Y-STR基因座中共检出794种单倍型,其中788种为唯一单倍型,总的单倍型多样性（HD）和识别能力（DC）分别为0.999 98和0.992 5。24个基因座共检出296个等位基因,基因多样性值（GD）在0.552 1-0.960 9之间。800对父子中共19 219次等位基因传递中,观察到41对父子共42个突变事件,各基因座总突变率为2.185 310^-3（95%CI 1.575 410^-3-2.952 810^-3）。结论本研究24个Y-STR基因座在广东汉族群体具有较高的遗传多态性,在法医学个体识别、父系亲缘关系鉴定等方面具有很高的应用价值。     

SiFaSTR~(TM) 23plex DNA身份鉴定系统在华东汉族人群中的法医学应用

目的调查SiFaSTR~(TM)23plexDNA身份鉴定系统所包含的21个常染色体STR基因座及DYS391基因座在华东地区汉族人群中的遗传多态性,并评估其在法医学中的应用价值。方法采用SiFaSTR~(TM)23plexDNA身份鉴定系统对2000名无关个体进行分型检测,统计分析上述STR基因座的群体遗传学参数。采用该试剂盒对支持亲子关系的3198例案例进行检测,观察21个常染色体STR基因座的突变情况。结果21个常染色体STR基因座均符合Hardy-Weinberg平衡(P0.05),Ho为0.6175~0.9270,DP为0.7964~0.9869,PIC为0.5611~0.9123,CDP为0.999999999999999,CPE_(duo)为0.999997431701961,CPE_(trio)为0.999999999654865。DYS391基因座共检出5个等位基因,等位基因频率在0.0040~0.7290,GD为0.4189。除D13S317和D10S1248外,其余19个常染色体STR基因座共观察到76次突变,其中一步突变75次(98.68%),三步突变1次(1.32%),突变率为0.2465×10~(-3)~2.7114×10~(-3),21个常染色体STR基因座平均突变率为0.8921×10~(-3)(95%置信区间为0.70×10~(-3)~1.10×10~(-3))。33例三联体突变事件中,父、母源性突变比例为2.09∶1。结论SiFaSTR~(TM)23plexDNA身份鉴定系统在华东地区汉族人群中具有良好的遗传多态性,且各STR基因座突变率在可接受范围内,可用于法医学亲权鉴定和个体识别。     

24个Y-STR基因座的法医学应用评估

目的甄选单倍型识别力较强、突变率适当和兼容性较好的Y-STR标记系统,并对其进行法医学应用评估。方法采用自建荧光标记复合扩增体系对甄选得到的24个Y-STR基因座进行检验,并通过在山东济南采集的139对父-子样本对其进行法医学评估。结果 24个基因座在139个标记为"父"的无关个体样本中共检测出176个等位基因,基因多样性(gene diversity,GD)分布在0.083 7(DYS645)~0.966 9(DYS385a/b)。通过24个Y-STR基因座在139名标记为"父"的山东汉族男性无关个体中共检测出139种单倍型,无共享单倍型现象出现。总的单倍型多样性(haplotype diversity,HD)值为1,识别能力(discriminative capacity,DC)值为1。24个Y-STR基因座,在139对父-子间共观察到5次一步突变,平均突变率为0.001 5,95%置信区间为(0.000 5,0.003 5)。结论 24个Y-STR基因座组成的位点系统在山东济南人群中表现出较强个体识别能力和较低突变率,具有较好的法医学应用价值。     

26个Y-STR基因座遗传多态性及突变调查

目的调查26个Y-STR基因座的突变率和遗传多态性,研究其法医学应用效能。方法本文以575对蒙古族父子对为模板,统计26个Y-STR基因座的突变率,并且研究26个Y-STR基因座在黑龙江省蒙古族、江西省汉族及福州市汉族等3个地区777个无关男性个体中的遗传多态性,评估该试剂盒的法医学应用价值。结果26个Y-STR基因座在575个蒙古族父子对中观察到52次突变,在46个父子对中观察到突变现象,平均突变速率为1.93×10^-3。遗传多态性研究中,黑龙江236名蒙古族检出235种分型,单倍型多样性为0.999964;323名福建汉族检测出320种分型,单倍型多样性为0.999942;218名江西汉族检测出217种分型,单倍型多样性为0.999958。结论快速突变基因座可以帮助增加系统的识别能力,但在Y-STR数据库家系查询应注意突变的影响。系统中所选择分析的基因座对该系统在法医学应用中的分辨能力至关重要,实验结果表明该体系在案件检验及数据库建设中具有良好的应用价值。     

云南汉族家系Y—STR基因座突变率研究

目的研究Y—filer试剂盒中DYS19等基因座在云南省汉族家系样本中的突变率。方法应用Y—filer试剂盒中的DYS456等16个Y—STR基因座对云南省30个汉族家系爷／孙、叔／侄和兄弟／堂兄弟亲权关系的106份样本进行基因分型检测,对DYS19等基因座分型与家系其他成员不同的样本分别进行了单位点的测序。结果6个（周姓、徐姓、王姓、袁姓、许姓、李姓）不同父系姓氏7例样本的10个Y—STR基因座发生突变,分别是DYS19、DYS385各2例,DYS389Ⅰ、DYS389Ⅱ、DYS390、DYS458、DYS393、DYS635各1例,总突变率为5．549‰;王姓、袁姓、许姓家系中各有1例样本分别在2个Y—STR基因座上发生了突变。结论男性家系中随机样本Y—STR基因座的突变率高于父子对样本;用Y—STR基因座进行父系亲权鉴定和男性嫌疑人的家系排查时,既使有2个Y—STR基因座分型不同时也不要轻易排除其来源于同一父系家系。     

新Y-STR基因座DYS709在汉族人群中的遗传多态性调查

目的筛选新的Y-STR基因座,调查其在汉族人群中的等位基因频率分布,评价其在法医学及其它方面的应用价值。方法在Y染色体基因组DNA中查找候选基因座,在重复顺序两端设计引物,PCR扩增后用银染法显示结果。结果一个重复单位为CTTT的Y-STR基因座DYS709被发现。在102例汉族无关男性个体血样中共检出了7个等位基因。基因多样性为0.7063,个人识别能力(PD)和非父排除率(PE)均为0.7063。结论新筛选到的DYS709具有较高的遗传多态性,在法医学及人类遗传学方面具有应用价值。     

珠海地区汉族人群10个Y-STR基因座的多态性

目的 调查珠海地区汉族人群10个Y-STR基因座及其单倍型的遗传多态性，探讨其法医学应用价值。方法 应用Y-PLEX荧光标记复合扩增系统，对珠海地区汉族200名无关男性个体进行10个Y-STR基因座的复合扩增，用ABI310型基因分析仪对扩增产物进行检测，统计10个Y-STR基因座的群体遗传学参数。结果 9个Y-STR基因座分别检出5、6、6、5、4、5、5、5、7个等位基因，DYS385基因座检出44种单倍型；GD值最低为0.3904(DYS391)，最高为0.9497(DYS385)；10个Y-STR基因座共同构成的单倍型161种，其中134种单倍型只出现1次，20种单倍型出现2次，3种单倍型出现3次，3种单倍型出现4次，1种单倍型出现5次，累计GD值为0.9948。结论 10个Y-STR基因座具有较高的个体识别能力，可应用于法庭科学中的个体识别与亲权鉴定。     

Evaluation of 13 rapidly mutating Y-STRs on a Dravidian pedigree

The effectiveness of a rapidly mutating Y-STRs multiplex assay (RM Y-STRs) containing 13 RM Y-STR markers was compared with the AmpFℓSTR™ Yfiler™ PCR Amplification Kit (Yfiler) with conventional Y-STR markers for their efficiency in differentiating males within the same paternal lineage. Samples from 4 generations comprising 16 Dravidian males (15 father-son pairs) were analysed with both assays. Mutations were observed in 3 father-son pairs in the RM Y-STRs profiles while only 2 mutations were observed in the Y-filer profiles. Even though not many mutations were observed as anticipated, this study still emphasised the importance of RM Y-STRs when differentiation between males within the same paternal lineage is required and also indicated the need for mutation rates for different populations.     

Twelve short tandem repeat loci Y chromosome haplotypes: genetic analysis on populations residing in North America

A total of 2443 male individuals, previously typed for the 13 CODIS STR loci, distributed across the five North American population groups African American, Asian, Caucasian, Hispanic, and Native American were typed for the Y-STR loci DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439 using the PowerPlex Y System. All population samples were highly polymorphic for the 12 Y-STR loci with the marker DYS385a/b being the most polymorphic across all sample populations. The Native American population groups demonstrated the lowest genetic diversity, most notably at the DYS393 and DYS437 loci. Almost all of the 12-locus haplotypes observed in the sample populations were represented only once in the database. Haplotype diversities were greater than 99.6% for the African Americans, Caucasians, Hispanics, and Asians. The Native Americans had the lowest haplotype diversities (Apaches, 97.0%; Navajo, 98.1%). Population substructure effects were greater for Y-haplotypes, compared with that for the autosomal loci. For the apportionment of variance for the 12 Y-STRs, the within sample population variation was the largest component (>98% for each major population group and approximately 97% in Native Americans), and the variance component contributed by the major population groups was less than the individual component, but much greater than among sample populations within a major group (11.79% versus 1.02% for African Americans/Caucasians/Hispanics and 15.35% versus 1.25% for all five major populations). When each major population is analyzed individually, the R(ST) values were low but showed significant among group heterogeneity. In 692 confirmed father-son pairs, 14 mutation events were observed with the average rate of 1.57x10(-3)/locus/generation (a 95% confidence bound of 0.83x10(-3) to 2.69x10(-3)). Since the Y-STR loci reside on the non-recombining region of the Y chromosome, the counting method is one approach suggested for conveying an estimate of the rarity of the Y-haplotype. Because the Y-STR loci are not all in disequilibrium to the same extent, the counting method is a very conservative approach. The data also support that autosomal STR frequencies can be multiplied by the upper bound frequency estimate of a Y-haplotype in the individual population group or those pooled into major population groups (i.e., Caucasian, African American, Hispanic, and Asian). These analyses support use of the haplotype population data for estimating Y-STR profile frequencies for populations residing in North America.     

Analysis of mutations in father–son pairs with 17 Y-STR loci

We have examined 389 father/son sample pairs from U.S. Caucasians, African Americans, Hispanics and Asians using the 17 Y-STR loci in the Yfiler™ kit and observed a total of 24 differences between father and son. Thirteen mutations resulted in the gain of a repeat in the son and 11 resulted in a loss of a repeat. All samples resulted in single repeat mutations except one sample which contained a two repeat loss at Y-GATA-H4. Furthermore, two different sample pairs were found to have two mutations. An African American sample pair had a mutation at DYS458 and a second at DYS635 and an Asian sample pair had mutations at DYS439 and Y-GATA-H4.     

Population genetics of 25 Y-STR loci in Chinese Han population from Liaoning Province,Northeast China

In this study, we investigated the genetic characteristics of 25 Y-chromosomal short tandem repeat loci in 305 unrelated Chinese Han male individuals from Liaoning Province, using AmpFISTR® Yfiler® Plus amplification kit. A total of 293 different haplotypes were observed at the 25 Y-STR loci; among them, 281 were unique and 12 were occurred twice. The overall haplotype diversity was 0.9997 and the discrimination capacity was 0.9607. The gene diversity values ranged from 0.4525 (DYS391) to 0.9617 (DYS385). Population relationships between our data and other published populations were measured by Rst and visualized in two multi-dimensional scaling plots. The results showed that the 25 Y-STR loci in Liaoning Han population are valuable for forensic application and human genetics.     

Mutations at Y-STR loci: implications for paternity testing and forensic analysis

Knowledge about mutation rates and the mutational process of Y-chromosomal short-tandem-repeat (STR) or microsatellite loci used in paternity testing and forensic analysis is crucial for the correct interpretation of resulting genetic profiles. Therefore, we recently analysed a total of 4999 male germline transmissions from father/son pairs of confirmed paternity (probability > or = 99.9%) at 15 Y-STR loci which are commonly applied to forensics. We identified 14 mutations. Locus specific mutation rate estimates varied between 0 and 8.58 x 10(-3), and the overall average mutation rate estimate was 2.80 x 10(-3) (95% CIL 1.72 x 10(-3)-4.27 x 10(-3)). In two confirmed father/son pairs mutation at two Y-STRs were observed. The probability of two mutations occurring within the same single germline transmission was estimated to be statistically not unexpected. Additional alleles caused by insertion polymorphisms have been found at a number of Y-STRs and a frequency of 0.12% was estimated for DYS19. The observed mutational features for Y-STRs have important consequences for forensic applications such as the definition of criteria for exclusions in paternity testing and the interpretation of genetic profiles in stain analysis. In order to further enrich our knowledge of Y-STR mutations we suggest the establishment of a Y-STR mutation database and ask the forensic community for data contribution.