湖南地区汉族人群12个常染色体STR基因座的遗传多态性

STR基因座因其在人类基因中分布广泛、片段小、易扩增，所需检材微量及其高度杂合性、高度多态性而广泛应用于构建人类遗传图谱、基因定位、遗传病连锁分析、基因诊断和法医学鉴定方面。本研究探讨了湖南汉族人群12个常染色体STR基因座的遗传多态性，为该地区汉族人群法医学个人识别和亲权鉴定提供基础数据。     

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。     

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。     

DNA甲基化标记检测方法及其法医学应用

DNA甲基化是重要的表观遗传修饰,主要在转录水平上调控基因的表达。DNA甲基化在人类基因组中含量丰富、分布广泛;甲基化谱有时空特异性、细胞特异性和亲源特异性。新近研究表明DNA甲基化在组织体液鉴定、同卵双生子鉴定、年龄推断、性别推断和亲子鉴定等方面具有一定的应用价值,有望成为一种新的法医学遗传标记。本文就DNA甲基化检测方法的研究进展及法医学应用进行综述,以期为法医学实践提供参考。     

山西汉族X-STR基因座DXS9902、DXS7132的遗传多态性

X染色体STR基因座由于其独特的遗传方式,在法医学鉴定的一些特殊案件中表现出了常染色体遗传标记无法比拟的优势,已有多个X染色体的STR基因座被应用于法医学鉴定。本研究通过对山西汉族人群DXS9902和DXS7132两个X-STR基因座及单倍型遗传多态性进行调查,为法医学个体识别、亲子鉴定及遗传学研究等提供了基础数据。     

河南汉族人群23个Y-STR基因座遗传多态性

<正>人类Y染色体是男性特有,呈父系、单倍型遗传特征,在法医学检验中作用独特。本研究采用Power PlexY23荧光标记复合扩增系统(美国Promega公司),对河南汉族人群23个Y-STR基因座的遗传多态性进行调查,旨在为法医学应用及群体遗传学研究提供基础数据。1材料与方法1.1样本1 100例居住于河南、无父系亲缘关系的汉族男性个体的纸质血样取自实验室日常检案积累。     

云南回族人群17个常染色体STR基因座的遗传多态性

正STR是当前法医DNA分析的主流遗传标记,具有较高的突变率,这虽然会影响法医分型判断和鉴定意见的准确性,但为群体遗传学提供了研究基础。因此,常染色体STR基因座被广泛运用于人类群体遗传学研究。本研究对云南回族人群17个常染色体STR基因座的遗传多态性进行调查,以期为法医学个体识别、亲权鉴定以及群体遗传学研究提供基础数据。     

中国东莞地区汉族人群22个Y-STR基因座的遗传多态性

目的调查22个Y-STR基因座在东莞地区汉族人群中的遗传多态性。方法应用Power Plex?Y-23试剂盒扩增22个基因座,扩增产物经3130XL型遗传分析仪电泳检测,用Gene Mapper软件进行等位基因分型。结果1042名男性共检出1042种不同的基因型,22个Y-STR基因座的GD值为0.413 9~0.959 9。结论 22个Y-STR基因座在东莞地区汉族人群中有较好分布,对法医学应用和人类群体遗传学研究具有重要价值。     

FGA基因座突变的尸源鉴定1例

人类遗传标记严格遵守孟德尔遗传定律 ,人类重要遗传标记STR基因座在法医学亲子鉴定和尸源鉴定实践中具有十分重要意义。但STR基因突变在亲子鉴定中不容忽视 ,特别是FGA等基因座突变率高 ,在一些文献中已有报道。作者在一例尸源鉴定案中遇到FGA基因座不符合遗传规律的情况 ,经实验证实是由基因突变引起的。1　案例资料2 0 0 3年 11月 2 8日 ,重庆市涪陵区李某在彭水县失踪。 2 0 0 4年 1月 17日 ,警方根据犯罪嫌疑人罗某的供述在彭水县桑拓镇凤冠山上挖出掩埋的部分尸块 ,为确定尸源 ,彭水县公安局送来肋骨一段及失踪者李某的父亲张某…     

维吾尔族群体DCP1基因座I／D多态性的调查

血管紧张素转化酶1(Angiotensin-convertingen鄄zyme,ACE)是人类机体内的重要酶类,也称作二肽基羧肽酶1(DipeptidyleCarboxypeptidase1,DCP1),有报道证实,DCP1基因座I/D多态性在许多群体中的分布较好。很有可能成为法医学个人识别和亲子鉴定的一个有价值的遗传标记[2]。在国内少数民族群体中的数据还没有相关报道,因此我们就中国维吾尔族群体DCP1基因座I/D多态性的情况进行了调查,并探讨其在法医学和人类遗传学领域中的应用价值。1材料与方法1.1材料50例无血缘关系维吾尔族个体静脉抗凝血取自中国新疆乌鲁木齐市。1.2方法参照文献[3…     

HLA—A基因座分步PCR—SSP分型研究

目的使HLA基因分型能应用于法医常见检材的个人识别。方法 建立检测HLA—A基因座的分步PCR—SSP方法。先用一对HLA—A基因座特异的引物作第一次扩增,以所得产物为模板,分别用对HLA—A30、A31、A33特异的3对引物作第二次扩增,二次扩增的产物经电泳判型。结果 1130例血清分型为HLA—A30、A31、A33的血痕,其PCR—SSP分型和血清分型的不符合率为29％;室温保存2年的精斑、唾液斑,保存18年的血痕第一次扩增均获得满意的结果。结论法医亲子鉴定和个人识别宜用基因分型替代血清分型。HLA—A基因座分步PCR—SSP基因分型适用于法医检材。     

HLA-A基因座多态性在亲子鉴定中的应用研究

首次将HLA A基因座的聚合酶链反应 寡核苷酸探针 (PCR SSOP)杂交分型技术应用于亲子鉴定案例分析 ,以获得HLA A基因座多态性用于法医学鉴定分析的基础数据。HLA A基因座基因分型的等位基因检出率 ( 2 4个 )和非父排除率 ( 73 3 % )均高于血清学检测方法 ;正常家系分析结果符合孟德尔遗传规律。对 3 9个亲子鉴定例的成员进行HLA A基因检测 ,9例排除 ( 2 3 1% ) ;未排除的 3 0例的亲子关系概率在 65 2 %～ 99 5 %之间。用PCR SSOP技术对HLA基因座基因分型不仅可以应用于亲子鉴定和法医学个人识别 ,还可以应用于器官移植配型及人类遗传学研究。     

HLA typing of dried sperm

HLA human histocompatibility leukocyte antigens -A and -B antigens are expressed on human spermatozoa. A micro- and a macro-technique are described to HLA-type dried sperm coming from unknown subjects. The high HLA genetic polymorphism allows a high degree of sperm individualization which may be of value to blame or discard suspects in forensic science cases.     

Highly sensitive HLA-DNA typing from formalin-fixed and paraffin-embedded tissue samples

Nucleotide sequences have been determined for more than 1700 different alleles at the core of the human leukocyte antigen (HLA) system. The highly polymorphic character of these genes affects adaptive immune response and is also useful for forensic applications. HLA typing from formalin-fixed and paraffin-embedded tissue provides abundant useful information for both clinical settings and forensic investigations. This study, which investigated the potential use of DNA from formalin-fixed and paraffin-embedded tissue samples in an HLA PCR sequence-specific primer and probe (SPP) system, showed that tissue fixed in formalin for less than 3 days and embedded in paraffin can serve as a useful source of DNA for PCR-SPP typing kits.     

HLA 及其在法医学上的应用

HLA 是迄今人类最复杂的遗传多态性系统,其在法医学上的应用,包括亲子鉴定和个人识别的重要性日益被认识。作者等对血痕、血清和唾液的 HLA 测定的研究结果证明:(1)血痕中存在较强的抗补体作用。应用淋巴细胞毒抑制试验测定血痕的 HLA 时,增加补体用量可使测定的正确率达100%,经90天的血痕仍能完全正确检出 HLA 型。(2)血清的 HLA 测定是可行的,这对远道送检血清及尸体血清测定 HLA 有一定价值。(3)唾液中有可溶性 HLA 抗原存在。     

Application of HLA-DRB1 genotyping by oligonucleotide micro-array technology in forensic medicine

The human leukocyte antigen (HLA) system is known to be the most complex polymorphic system in the human genome. Among all of the HLA loci, HLA-DRB1 has the second largest number of alleles. The purpose of this study is to develop an oligonucleotide micro-array based HLA-DRB1 typing system for use in forensic identification, anthropology, tissue transplantation, and other genetic research fields. The system was developed by analyzing the HLA-DRB1 (DRB1) genotypes in 1198 unrelated healthy Chinese Han individuals originating from various parts of China and residing in Shanghai, China. METHOD: Polymerase chain reaction (PCR) coupled with the oligonucleotide micro-array technology was used to detect and type HLA-DRB1 alleles of the sample individuals. The reliability, sensitivity, consistency and specificity were evaluated for use in forensic identification. Furthermore, a meta-analysis was carried out by comparing the allele frequencies of the HLA-DRB1 locus with those of other Chinese Han groups, Chinese minorities and other ethnic populations. RESULTS: All the DNA samples yielded a 273 bp amplification product, with no other amplification products in this length range. The minimum quantity of DNA detected by this method is 15 ng in a PCR reaction system of 25 microl. The population studied appeared to be not in Hardy-Weinberg equilibrium. Observed heterozygosity (Ho), expected heterozygosity (He), expected probability of exclusion (PE), polymorphic information content (PIC), and discrimination power (DP) of the HLA-DRB1 locus from the Shanghai Han ethnic group were evaluated to be 0.8022, 0.8870, 0.7741, 0.8771, 0.9750, respectively. A total of 25 HLA-DRB1 alleles were identified. HLA-DRB1*09XX, *04XX, *12XX and *15XX were the most frequent DRB1 alleles, which were observed in 58.76% of the sample. One hundred and sixteen genotypes were found. The five most frequent genotypes were: *04XX/*04XX (0.0626), *09XX/*09XX (0.0593), *04XX/*09XX (0.0551), *09XX/*15XX (0.0384) and *08XX/*12XX (0.0351). The meta-analysis showed that there were uniquely distributed features of DRB1 alleles among various ethnic populations and among the studied population groups from various regions with the same ethnic origin. CONCLUSIONS: An HLA-DRB1 genotyping system has been developed and established based on the oligonucleotide micro-array technology. The HLA-DRB1 typing of the Han population in Shanghai has revealed a relatively high heterogeneity. Information obtained in this study will be useful for medical and forensic applications as well as in anthropology research. Large-scale micro-array detection is highly accurate and reliable for DNA-based HLA-DRB1 genotyping. These results suggest that HLA-DRB1 DNA polymorphisms and the database of the Shanghai Han group have useful applications in processing forensic casework (as personal identification, paternity test), tracing population migration and genetic diagnosis.     

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。     

Report of the blind trial of the Cetus Amplitype HLA DQ alpha forensic deoxyribonucleic acid (DNA) amplification and typing kit

The AmpliType HLA DQ alpha forensic DNA amplification and typing kit is designed for the qualitative analysis of the human leukocyte antigen (HLA) DQ alpha alleles present in deoxyribonucleic acid (DNA) extracted from forensic samples. The AmpliType kit is the first forensic DNA typing product based on the GeneAmp polymerase chain reaction (PCR) process. The kit was evaluated by five forensic science laboratories (test sites) to assess their ability to perform DNA typing using PCR on sample types typically encountered by forensic laboratories. None of the DNA-containing samples was mistyped. Of the 180 DNA-containing samples analyzed, results were reported for 178 (98.9%). Of the 178 samples with results, all were correctly typed. Two sites did not report a result for one sample each. Four of the five laboratories experienced no significant levels of contamination in the DNA-containing samples. At the one site with the highest number of DNA-containing samples with contamination, the typing results were not compromised. This site was able to correct the contamination problem through simple procedural changes and stricter attention to sterile technique. Blank controls were important to monitor contamination. In conclusion, the trial demonstrated that forensic science laboratories are capable of setting up a PCR-based DNA typing laboratory and successfully using the AmpliType HLA DQ alpha forensic DNA amplification and typing kit to analyze forensic samples.     

Human Leukocyte Antigen alleles as an aid to STR in complex forensic DNA samples

Human biological samples with multiple contributors remain one of the most challenging aspects of DNA typing within a forensic science context. With the increasing sensitivity of commercially available kits allowing detection of low template DNA, complex mixtures are now a standard component of forensic DNA evidence. Over the years, various methods and techniques have been developed to try to resolve the issue of mixed profiles. However, forensic DNA analysis has relied on the same markers to generate DNA profiles for the past 30 years causing considerable challenges in the deconvolution of complex mixed samples. The future of resolving complicated DNA mixtures may rely on utilising markers that have been previously applied to gene typing of non-forensic relevance. With Massively Parallel Sequencing (MPS), techniques becoming more popular and accessible even epigenetic markers have become a source of interest for forensic scientists.The aim of this review is to consider the potential of alleles from the Human Leukocyte Antigen (HLA) complex as effective forensic markers. While Massively Parallel Sequencing of HLA is routinely used in clinical laboratories in fields such as transplantation, pharmacology or population studies, there have not been any studies testing its suitability for forensic casework samples.     

Behavior of genetic markers in recipients after bone marrow transplantation and problems in forensic medicine

The authors report studies on four pairs of donors and recipients in bone marrow transplantation (BMT). A broad range of gene markers at 41 gene loci, including 11 red blood cell markers, 5 human lymphocyte antigen (HLA) types, 12 serum protein markers, 5 red cell enzyme markers, and 8 salivary markers were evaluated before and after BMT over 2 months. As a result, 9 out of 41 gene loci of genetic markers in recipients were transformed into the donor type. BMT between family members may lead to transformation of gene markers, but within a pattern compatible with family inheritance patterns, and no genetic paradox will be found in later surveys of familial genetic relationships. However, in a personal identification system in forensic medicine using genetic markers as an index, the appearance of a phenotype incompatible with a blood relationship is possible after BMT with a non-blood-relative donor. This result is similar to the inheritance pattern observed after artificial insemination by a donor's semen (AID), a more complete out-of-family cross.