Y染色体STR检验技术在侦查破案中的应用

Y染色体STR具有父系遗传特点,同一家族中男性个体的Y染色体STR分型检验结果完全一样。当在现场上发现了男性犯罪嫌疑人的生物检材,如精斑、血迹、烟头等,对相关范围内家系中男性个体进行调查,可以缩小侦查范围并节省大量经费。Y染色体作为常规DNA检验方法,在侦查破案中的作用越来越大,本文介绍本实验室两年来Y染色体STR检验技术的应用情况,供大家参考,以求共进。1用Y染色体STR父系遗传特点进行个体排查1.1明确方向缩小侦查范围在DNA检验人员少,资金不足的情况下,应有效利用资金及人力,不能盲目用DNA检验技术广泛排查。如果案件具…     

闽南地区汉族17个Y-STR基因座遗传多态性

正在法医遗传学研究领域,Y染色体遗传标记已成为常染色体的重要辅助遗传标记。由于Y染色体遗传标记的遗传特点和在不同群体中的差异,其单倍型的分布具有群体特异性。本研究对中国闽南地区汉族17个Y-STR基因座和单倍型频率的遗传多态性进行调查,旨在为人类遗传学、法医遗传学研究提供群体遗传学数据。     

综合应用Y-STR和全同胞关系破获命案积案1例

Y染色体具有父系遗传的特性。公安机关已建立了Y-STR家系排查方法,用以划定侦查范围、确定犯罪嫌疑人所在的家系。在本文中,技术人员通过Y-STR定位家系,容差推断锁定近亲家系并利用状态一致性(IBS)分析法鉴别全同胞关系,充分挖掘检材分型信息,更好地服务侦查破案,丰富了Y-STR的综合应用策略。     

山东汉族人群37个Y-STR基因座多态性与突变调查

<正>Y染色体具有男性特有、父系遗传的特点,相比常染色体遗传标记有其独特的优点。Y-STR具有非重组、单倍型父系遗传的特征,近年被广泛应用于家系排查、混合斑男性成分检测检验中,已成为公安机关侦破案件的重要手段之一^[1]。Y染色体分为拟常染色体区和非重组区,拟常染色区常与X染色体发生重组,     

德州地区汉族人群27个Y-STR基因座多态性分析

<正>人类Y染色体的遗传方式不同于常染色体,其DNA在父亲遗传给儿子的过程中不发生重组,为单倍型遗传(父系遗传)~[1]。DE KNIJFF等~[2]认为Y染色体短串联重复序列(Y-STR)具有丰富的单倍型信息以及高度的多态性和父系遗传等特点,因此,在法医学检验实践中具有重要的应用价值,特别是在父系血缘关系鉴定和性侵案件的混合斑男性成分识别中被广     

Y染色体法医DNA检验策略

法医DNA检验在实际工作中发挥了重要作用,其中针对Y染色体进行的DNA检验,可以开展家系排查和辅助父系亲缘鉴定,为案件侦查提供重要线索。本文针对Y染色体DNA检验,讨论完整利用染色体具有的信息,制定整体检验策略,以期为相关研究和试剂盒开发研制提供参考。     

宿迁地区汉族人群25个Y-STR遗传标记的遗传多态性

<正>Y染色体是人类染色体中最小的一条,目前已经精确定位到Y染色体上的STR遗传标记有400多个~([1]),而在法医学领域被广泛研究的只有20多个~([2,3])。YSTR遗传标记被广泛应用于人类进化、群体遗传结构分析、亲子鉴定、性犯罪等领域。Y-STR遗传标记呈现严格的父系遗传特征,在混合斑男性成分分析、男性个体来源推断、父系亲权     

Y染色体STR基因座的研究进展

人类Y染色体STR基因座作为一个特殊的遗传标记以其独特的优势在法医学实践中发挥着重要作用。本文就Y染色体STR基因座的相关理论和研究动态等进行综合评述,为Y染色体STR基因座在法医学中的应用进行有益的探索。     

苏北地区汉族人群19个Y—STR基因座的遗传多态性

Y染色体短串联重复序列（Y—STR）作为常用的Y染色体特异遗传标记，在法医学个体识别、亲子鉴定、混合斑中男性成分检测、追溯父系迁移历史f1J等方面都具有独特的应用价值，是常染色体及mtDNA的重要补充。本研究调查了苏北地区642名汉族无关男性个体的19个Y—STR基因座的遗传多态性，以期为该群体的DNA检验鉴定提供基础数据。     

Y染色体STR基因座的研究进展

人类Y染色体STR基因座作为一个特殊的遗传标记以其独特的优势在法医学实践中发挥着重要作用。本文就Y染色体STR基因座的相关理论和研究动态等进行综合评述，为Y染色体STR基因座在法医学中的应用进行有益的探索。     

EA-YPredictor:基于Y-STR数据的家系特异性单倍群归属判别分析软件

目的Y染色体为男性所特有,其遗传标记蕴含着丰富的生物地理信息,故可溯源家系,在嫌疑人排查和追踪中发挥作用。Y-STR突变率较高,而Y-SNP突变率极低,几乎不会发生回复突变,所以后代男性群体携带祖先特有的Y-SNP。本研究期望通过现在我国Y库建设中通用的17个Y-STR的单倍型数据预测Y-SNP单倍群细支。方法基于前期观察,选取千人基因组计划III期中的513例东亚人群(中国及周边区域)作为基础数据集,在Java平台和Microsoft Excel软件框架下,以遗传距离计算和Y染色体进化树构建手段相联合研发Y-STR数据的家系特异性单倍群归属判别分析软件:EA-YPredictor。结果本研究揭示了15个单倍群大支下的核心单倍型。通过随机选取70个公开数据库样本,EA-YPredictor软件预测准确性达到92.8%(95%置信区间:[84.1%,97.6%])。结论在Y-SNP复合扩增检测尚无定论的情况下,本软件可基于二代测序样本对Y-STR数据库样本进行单倍群细支的准确预测,能适用于辅助家系单倍群判断。随着测序技术的不断换代和优化,更多高通量的Y-STR和Y-SNP数据补充将会使本软件进一步优化。此外,本软件对于Y数据库中Y-SNP遗传标记的筛查建库有一定指向作用。     

联合应用STR和SRY基因分型技术分析性分化异常者

目的对Amelogenin分型结果为“X,X”的一名“男孩”进行性别确认。方法采用STR检测和SRY基因检测技术进行分析。结果孩子STR、X-STR的检验结果符合女性性别特征,SRY基因检测结果为阴性。结论应用STR、X-STR检测和SRY基因检测技术可以确证“男孩”Amelogenin基因座结果为“X,X”,推断其患有“46,XX”男性性反转综合症。     

二代测序技术在Y染色体遗传标记分型中的法医学应用

法医遗传学领域常利用Y染色体的父系遗传特点,对非重组区遗传标记进行检测并用于亲缘关系鉴定、混合斑检测、家系排查以及种族推断等研究。目前毛细管电泳仍是应用最为广泛的检测技术,基于该技术的商业化检测试剂盒及数据分析处理系统十分成熟。随着生物信息量的增长,传统检测技术通量低的弊端逐渐显现,推动了法医DNA分型技术的革新。近年来,二代测序(next generation sequencing,NGS)技术发展迅速,其应用已被推广到包括法医遗传学在内的各领域,为Y染色体遗传标记的检测提供了新的技术手段。本文就NGS技术应用于法医学Y染色体遗传标记检测的研究现况和应用前景进行阐述,以期为后续司法实务提供新思路。     

The human Y chromosome: function, evolution and disease

The human Y chromosome is strictly paternally inherited and, in most of its length, does not recombine during male meiosis. These features make the Y a very useful genetic marker for different purposes. In the last decade, the Y has been increasingly used to investigate the evolution, migrations and range expansions of modern humans. The possibility to construct highly informative Y chromosome haplotypes has also had a significant impact in forensic studies and paternity testing. All these studies assume that the Y chromosome markers used are selectively neutral. However, recent experimental and statistical analyses suggest that both positive and negative selection are acting on the Y chromosome and, consequently, may influence Y chromosome haplotype distribution in the general population. Current data suggest that the effects of selection on patterns of Y chromosome distribution are minimal, however as interest focuses on biological functions of the Y chromosome which have a major impact on male fitness such as fertility, these assumptions may be challenged. This review briefly describes the genes and biological functions of the human Y chromosome and its use in disentangling the origin and history of human populations. An overview of the role of selection acting on the Y chromosome from the perspective of human population histories and disease is given.     

Y chromosome haplotypes in Central-South Italy: implication for reference database

One hundred and fifty individuals have been sampled across Central-South Italy and genotyped for Y chromosome STRs by PowerPlex Y system. Comparison with previous Italian databases revealed that majority of Y chromosome variation still need to be sampled. Identification of locus duplications, distribution of genetic variation and firstly identified alleles point to the necessity of more focused sampling strategies for reference databases.     

Strategy of multiplex analysis of STR-loci polymorphism of Y-chromosome on the basis of "minimal haplotype"

A molecular-genetic analysis of Y chromosome is a convenient tool of paternal affinity determination. This method is now widely introduced in expert practice. Previous experience in typing of Y chromosome is outlined. Strategy of development and experience in operating a multiplex system for a simultaneous analysis of seven STR loci of Y chromosome is discussed.     

Haplotype analysis for Irish ancestry

Forensic haplotype analysis of the male Y chromosome is currently used to establish the number of male donors in sexual assaults, the number of male bleeders in blood pattern analysis, and for ancestry correlation to genetic founder populations in biogeographic studies. In forensic laboratory applications, its primary use is for DNA profile generation with trace amounts of male DNA in the presence of excess female DNA (e.g. spermatozoa identification, male component of fingernail scrapings). Our study supports the potential use of the Y chromosome in a “dragnet” approach (most haplotypes are unique) similar to that described by Kayser in 2017 for solving a cold case sex assault and homicide in The Netherlands. Our study also researched the potential for the identification of an ancestral Irish genetic “footprint” linked to surname O’Brien and identified multiple founder group origins in Ireland and England as well as three samples with the Dal Riata (a Gaelic overkingdom) ancestral haplotype. This study indicates correlation to ancestral Irish ancestry by haplotype but not conclusively to the O’Brien surname.     

Grading a rape case followed by death from the study of autosomal STRs and STRs of the Y chromosome—Case study

Two women were found dead inside a residence. Choke causes death in one that had been naked in a bed and contusion injury in another that was found on a sofa. Were received samples of vaginal and anal swabs of the two victims of homicide with suspected of having suffered sexual violence. References also received samples of two victims and a suspect. We performed genetic analysis for identification of samples from the meeting of any possibility of overlap between patterns and profiles of sequences of deoxyribonucleic acid (DNA) based on genetic relationship between those involved. The reference samples were subjected to the procedure of extraction of nuclear DNA by Chelex method and the swabs samples by differential extraction. For all the samples were performed for amplification of STRs loci and autosomal STRs of chromosome Y. The profiles of DNA sequences were obtained by the Polymerase Chain Reaction (PCR), using sequences starting with marked substances emitting fluorescence detected by reading the optical laser in 3100 Avant automatic sequencer from Applied Biosystems. The information of consecutive loci of Short Repeats or STRs of autosomal chromosomes and the Y chromosome was obtained using the systems or products sold in multilocus, methodologies recommended by the supplier and valid for analysis of DNA. We used the multilocus Identifiler and YFiler system of Applied Biosystems to the amplification of samples. The validation of results has shown a genetic profile in male anal secretion of the victims with a complete coincidence with the suspect.     

Y-STR单倍型分析对男性家系数据库建设的探讨

目的通过对云南省镇雄县王姓家系Y-STR单倍型分析,确定其主流单倍型及亚单倍型,探索该地王姓家系Y染色体标志性基因型。寻找适于云南封闭山区的数据库建设方法。方法采集云南省镇雄县2镇19村男性血样8527份,应用阅微基因Microreader^TM 29Y Direct ID System试剂盒对样本进行复合扩增,分析该地占比最大姓氏王姓家系923份男性个体单倍型多样性。结果923份王姓样本共观察到Y-STR单倍型451种,其中348种单倍型分别出现1次,103种单倍型出现2次及以上,各单倍型出现次数1~92次不等。将检测结果中相同人数大于3人的单倍型定为主流单倍型,获得该地王姓15个主流分型。结论该县区王姓家系存在主流单倍型,王姓与其他姓氏有双向基因交流。封闭山区数据库建设,应明确家系溯源,确定各姓氏主流分型,以有限样本量涵盖尽可能多的家系人员,提高建库效率。