常染色体STR和X染色体STR联合应用于姑侄和叔侄关系鉴定

目的通过对常染色体STR和X染色体STR基因座进行分型检验,探讨姑侄、叔侄关系的鉴定策略。方法提取案例中被检女孩和另外3名个体（女性2名,疑为被检女孩的姑姑;男性1名,疑为被检女孩的叔父）的血样DNA,采用Goldeneye 20A系统和AGCU 21＋1系统分别进行常染色体STR基因座的复合PCR扩增,用Mentype○RArgus X-12试剂盒和本室自主研制的16重X染色体STR扩增体系分别进行X染色体STR基因座的复合PCR扩增,用3130 XL遗传分析仪进行毛细管电泳和基因型分析。结果依据常染色体STR基因型结果及姑侄、叔侄关系指数计算结果,不排除2名被检姑姑和与被检女性存在姑侄关系;不排除被检叔叔和与被检女性存在叔侄关系,X染色体STR分型结果支持此鉴定意见。结论对于姑侄、叔侄关系鉴定案例,X染色体STR基因座是常染色体STR基因座的良好补充,两者联合运用可获得可靠的鉴定意见。     

DNA甲基化标记法医学应用探讨

CpG的胞嘧啶在DNA复制后多数被甲基化,5-甲基胞嘧啶的分布是贮存表遗传信息的主要形式。近年来研究表明,DNA甲基化标记具有信息含量丰富、相对稳定、检测和结果处理方便、可与SNP联合分析等优点,是一种新的强有力的遗传分析工具。基因组的甲基化差异可用甲基化敏感性限制酶、重亚硫酸盐转化、Maxam-Gilbert裂解等技术来分析。人类基因组甲基化谱有时空特异性、亲源特异性、病理特异性等特征,在法医亲子鉴定、个人识别等方面有潜在应用价值。     

D8S384基因座的遗传多态性及其在法医物证检验中的应用

揭示人类自然群体中D8S384基因座的基因型频率,评估D8S384基因座在法医物证中的应用价值,以及建立D8S384基因座的分型方法。用不同基因型PCR产物混合的方法,制备了D8S384等位基因分型标准物,并按照国际法医血液遗传学会DNA委员会推荐的原则命名了等位基因。采用PCR扩增、电泳分析、银染显色的方法,调查了世界3大人种11个群体1103名个体的D8S384基因型。D8S384基因座共有8个等位基因,群体内基因型分布符合Hardy－Weinberg平衡,群体间基因型构成有显著性差异。利用群体数据估计了D8S384基因座的法医学理论应用价值,计算得出D8S384基因座的期望杂合度为0．704±0．014,个人识别机率为0．864。D8S384基因座是一个较好的法医学STR遗传标记。     

Mites (Acari) as a Relevant Tool in Trace Evidence and Postmortem Analyses of Buried Corpses

This report interprets the presence of mite species in three clandestine graves in Europe, evaluating their potential use as trace evidence or markers. Grave 1 (Sweden): Two mite species Rhizoglyphus robini Claparède, 1869 and Parasitus loricatus (Wankel, 1861) were recovered from the surface of a body buried in a shallow grave in an area surrounded by trees, in close vicinity to house gardens. Grave 2 (Germany): Phoretic deutonymphs of Gamasodes spiniger (Trägårdh, 1910) were attached to an adult fly (Diptera: Sphaeroceridae) found within a shallow grave containing two human bodies covered in soil and dung. Grave 3 (France): P. loricatus were recovered from the soil around a body buried in a deep grave (80 cm under). In graves 1 and 3 both corpses were undergoing advanced decay and skeletization, the locations match with the subterranean habit of P. loricatus, highlighting the value of this species as a marker of graves or burials in soil and during late decomposition. R. robini is a soil mite that feeds on decayed roots and bulbs; this mite species confirms the location of the corpse within top soil, agreeing with a more specific type of superficial burial, a shallow grave. In case 2, the presence of both coprophiles, the mite G. spiniger and the carrier fly confirm association of remains with dung or animal feces. The three mite species are reported for the first time in human graves. There are no previous records of R. robini from Sweden.     

Parent–Child Relations,Conduct Problems and Cigarette Use in Adolescence: Examining the Role of Genetic and Environmental Factors on Patterns of Behavior

This study investigated genetic and environmental influences on the associations between mother–child relationship quality (warmth and hostility) and adolescent conduct problems and cigarette use. Participants included 601 mothers and adolescent twin pairs (aged 12–17 years). Mothers and adolescents provided separate reports of mother-to-child warmth and hostility. A combined measure of mother and adolescent reported conduct problems was used while adolescents provided reports of their cigarette use. Analyses were conducted using bivariate genetic analyses of correlated factors models and regression analyses of monozygotic twin differences. Genetic influences were found for most ratings of the parent–child relationship, with evidence of gender and/or rater-specificity for some measures. The relationship between mother–child hostility with adolescent conduct problems and cigarette use was influenced by genetic and environmental effects. Evidence was found for shared environment effects on the relationship between mother–child warmth and conduct problems. Examining monozygotic twin differences provided further support for non-shared environmental influence on the relationship between mothers’ expressions of hostility and low warmth and adolescent adjustment. Findings are discussed in relation to the interplay between genetic and environmental effects underlying links between parent–child relations and adolescent behavior problems.

成都地区汉族群体抗凝血因子Ⅲ的遗传多态性

用等电聚焦免疫固定技术，调查成都地区225名无血缘关系汉族男女青年血浆抗凝血因子Ⅲ（ATⅢ）表现型的分布，发现B、AB两种普遍型和一种BV变异型；推算出ATⅢ的基因频率，即ATⅢ*A=0．1022，ATⅢ*B=0．8956，ATⅢ*V=0．0022。该遗传标记在中国人群中的频率分布系国内首次报道。     

ISFG: Recommendations on biostatistics in paternity testing

The Paternity Testing Commission (PTC) of the International Society for Forensic Genetics has taken up the task of establishing the biostatistical recommendations in accordance with the ISO 17025 standards and a previous set of ISFG recommendations specific to the genetic investigations in paternity cases. In the initial set, the PTC recommended that biostatistical evaluations of paternity are based on a likelihood ratio principle – yielding the paternity index, PI. Here, we have made five supplementary biostatistical recommendations. The first recommendation clarifies and defines basic concepts of genetic hypotheses and calculation concerns needed to produce valid PIs. The second and third recommendations address issues associated with population genetics (allele probabilities, Y-chromosome markers, mtDNA, and population substructuring) and special circumstances (deficiency/reconstruction and immigration cases), respectively. The fourth recommendation considers strategies regarding genetic evidence against paternity. The fifth recommendation covers necessary documentation, reporting details and assumptions underlying calculations. The PTC strongly suggests that these recommendations should be adopted by all laboratories involved in paternity testing as the basis for their biostatistical analysis.     

论遗传资源的获取和惠益分享的产生

遗传资源是对人类具有实际或潜在用途或价值的一类重要的生物资源,遗传资源的获取问题经历了从自由获取向限制获取的转变过程。《生物多样性公约》的通过,标志着遗传资源的获取和惠益分享国际法律规范的正式确立,而《粮食和农业植物遗传资源国际条约》则针对粮食和农业植物遗传资源的特殊性质建立了粮食和农业植物遗传资源的获取和惠益分享多边系统。     

单核苷酸多态性研究进展

单核甘酸多态性（ SNPs）是继 RFLP和微卫星多态性标记之后的新一代遗传标记系统,具有密度高、遗传稳定、分析易自动化等特点。 SNPs可通过电泳、 PCR、酶切及测序等方法检测,已广泛应用于基因作图、疾病相关性分析、群体遗传学及药物研究等领域。     

成都汉族、甘肃东乡族群体D10S1432和D10S1213 位点的遗传多态性分析

目的本研究的目的是了解人类基因组中D10S1432及D10S1213两个STR位点在成都汉族和甘肃东乡族群体中的遗传多态性分布及两个群体之间的关系。方法采用PCR、聚丙烯酰胺凝胶电泳及银染技术,共调查了209例样本。结果在D10S1432位点上观察到5个等位基因,15种基因型。在D10S1213位点上观察到9个等位基因,31种基因型。两位点的基因型频率在调查的两个群体中的分布符合Hardy-Weinberg平衡定律（P>0.05）。经统计,D10S1432在这两个群体中的杂合度为0.664和0.737,个人识别几率为0.827和0.820。D10S1213的杂合度为0.664和0.657,个人识别几率为0.836和0.882。结论结果表明,D10S1432和D10S1213两个位点在法医学个人识别和亲子鉴定中有较高应用价值。