国产磁珠结合自动化工作站批量提取生物检材DNA的应用

目的建立国产磁珠结合自动化工作站批量提取案件中生物检材DNA的方法。方法采用国产磁珠结合Bio-Robert Universal System自动化工作站对案件中常见的生物样本进行DNA提取,检测Identifiler系统16个STR基因座,在ABI3130XL遗传分析仪上进行STR分型。其中210份样品同时在ABI7500型荧光定量PCR仪上进行定量。结果9100份10类生物检材应用国产磁珠结合自动化工作站,大部分可提取到足够的DNA进行STR检验。STR检验成功率最高的为口腔拭子、肌肉,达100%,接触细胞检材的成功率较低,为50.0%。结论国产磁珠结合自动化工作站可用于案件中常见的大部分生物样本的DNA提取。     

Rapid STR analysis of single source DNA samples in 2 h

The establishment of offender DNA databases is critical to future crime prevention. Many countries have established databases or are in the process of passing database legislation. With new legislation the number of samples that will be collected could begin to exceed the testing capacity of many labs leading to backlogs.Two bottlenecks in the workflow that can contribute to a backlog of samples are DNA purification and PCR cycling time. The average purification time is approximately 2 h and the average cycling time of current STR kits is approximately 3 h. To address the second problem we investigated alternative DNA enzymes to decrease PCR cycling time. It was necessary to balance the increase in time to result against the need to address factors which can impact interpretation of a DNA profile such as: generation of stutter products, non-template addition, intra-locus balance, accuracy, and species specificity.Initial feasibility studies demonstrate that alternative enzymes can decrease PCR cycling time. The data show that this assay can increase throughput, providing results in less than 2 h. However, decreasing PCR cycling time will have an affect on multiplex STR performance.     

亲子鉴定STR突变的考虑

亲子鉴定中常会发生STR（short tandem repeats,短串联重复）突变的情况。突变对亲子关系的判定会造成困扰。对STR突变规律和亲子鉴定中所遇到的STR突变问题、突变的判定、突变下非父排除率和父权指数的计算以及需与突变区分的情形等问题进行综述和讨论。     

Y-chromosome STR haplotypes in males from Greenland

A total of 272 males from Greenland were typed for 11 Y-chromosome STRs DYS19, DYS385a/b, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439 with the PowerPlex^® Y System (Promega). A total of 146 different haplotypes were observed and the haplotype diversity was 0.9887. The number of haplotypes seen once was 108 and the most common haplotype was observed in 12 males. A significant F_ST value was observed (F_ST = 0.012, P < 0.00001) when comparing the population of 15 locations in Greenland assigned to 7 groups. The significance could mainly be attributed to the subpopulation of males from Tasiilaq (East of Greenland). The R_ST value was not statistically significant (R_ST = 0.016, P = 0.15).     

Prevalence and impact of PCR artifacts from soil samples using the Applied Biosystems™ GlobalFiler™ PCR amplification kit: Interference of non-human artifacts in DNA profiles from a homicide investigation

Non-human artifacts have been observed in a range of forensic typing methods. This is primarily due to the condition and potential environmental contamination of many evidentiary samples. Here, a case example of non-human artifact peaks is presented to illustrate ways in which to recognize potential artifact peaks as well as mitigate their effect on interpretation.     

Y染色体STR的银染复合扩增

目的建立一套Y染色体STR的复合扩增体系,检测中国藏族人群的单倍型分布。方法利用复合扩增的方法扩增DYS434、DYS443和DYS456三个基因座,利用聚丙烯酰胺凝胶电泳银染进行分型,检测西藏藏族101名无关男性个体单倍型分布。结果三个基因座在藏族样本中分别检测出4、4、6个等位基因,共检测出31种单倍型,其单倍型的变异度是0.9481,标准误为0.0049。结论Y-STR的复合扩增在法医学的亲权鉴定和个人识别中有重要的作用。     

X染色体遗传标记研究进展

随着人类基因组计划的进展,全面深入地了解个体和群体间基因组的变异或多态性已成为可能,并日益显示其重要性。X染色体遗传标记的遗传多态性较多地表现在短串联重复序列和单核苷酸的多态性。这类多态性有助于解释个体的表型差异、不同群体和个体对疾病,特别是对复杂疾病的易感性、以及对各种药物的耐受性和对环境因子的反应,因此受到临床及法医工作者的重视。本文收集了国内外X染色体遗传标记在临床疾病诊断及法医DNA工作者实践中的研究和应用资料,汇总报道了X染色体遗传标记的研究进展。     

Testing and evaluation of 43 "noncore" Y chromosome markers for forensic casework applications

A developmental validation study was performed on three Y-STR multiplex systems, Multiplex III (MPIII), Multiplex IV (MPIV), and Multiplex V (MPV), to ascertain their potential applicability to forensic casework. MPIII contains eight Y-STRs, including DYS426, DYS435, DYS436, DYS441, DYS442, DYS446, DYS462, and Y-GATA-A10, and one InDel, YAP (DYS287). MPIV contains 21 Y-STR loci, including DYS443, DYS444, DYS445, DYS447, DYS448, DYS449, DYS452, DYS453, DYS454, DYS455, DYS456, DYS458, DYS463, DYS464, DYS468, DYS484, DYS522, DYS527, DYS531 DYS557, and DYS588. MPV contains 13 Y-STR loci, including DYS459, DYS476, DYS488, DYS513, DYS549, DYS561, DYS570, DYS575, DYS576, DYS590, DYS594, DYS598, and DYS607. Full genetic profiles were consistently obtained for all three multiplexes with 25-50 pg of male DNA. No significant amplification was observed with 1 mug of female DNA. Each multiplex permitted the determination of the number of male donors in male:male DNA admixtures. Species specificity studies demonstrated some cross-reactivity with some primate samples. Environmentally compromised blood samples produced full or partial profiles after exposure to various conditions for up to 1 year. Full profiles were recovered from simulated casework specimens including cigarette butts and postcoital cervicovaginal swabs. Population data were collected to determine individual loci gene diversity and multiplex discriminatory capacity.     

Genetic analysis for Y chromosome short tandem repeat haplotypes of Chinese Han population residing in the Ningxia province of China

POPULATION: One hundred and one unrelated, autochthonous healthy males of the Chinese Han population living in Yongning county of the Ningxia Hui Autonomous Region of China.     

用复合扩增方法检测4个Y-STR基因座单倍型

目的建立复合扩增Y-STR基因座的体系,获得中国汉族人的单倍型频率。方法复合扩增DYS439、DYS390、GATA-A7.2和DYS3934个基因座,用聚丙烯酰胺凝胶电泳和银染法进行基因分型。结果调查中国汉族558名无关男性个体,4个基因座分别检出7、7、7和6个等位基因,共180种单倍型,其单倍型的个体识别率为0.9853。结论该复合扩增体系在建立Y染色体STR数据库、在群体遗传研究和法医学鉴定中有应用意义。