Forensic typing of autosomal SNPs with a 29 SNP-multiplex—Results of a collaborative EDNAP exercise

We report the results of an inter-laboratory exercise on typing of autosomal single nucleotide polymorphisms (SNP) for forensic genetic investigations in crime cases. The European DNA Profiling Group (EDNAP), a working group under the International Society for Forensic Genetics (ISFG), organised the exercise. A total of 11 European and one US forensic genetic laboratories tested a subset of a 52 SNP-multiplex PCR kit developed by the SNPforID consortium. The 52 SNP-multiplex kit amplifies 52 DNA fragments with 52 autosomal SNP loci in one multiplex PCR. The 52 SNPs are detected in two separate single base extension (SBE) multiplex reactions with 29 and 23 SNPs, respectively, using SNaPshot kit, capillary electrophoresis and multicolour fluorescence detection. For practical reasons, only the 29 SBE multiplex reaction was carried out by the participating laboratories. A total of 11 bloodstains on FTA cards including a sample of poor quality and a negative control were sent to the laboratories together with the essential reagents for the initial multiplex PCR and the multiplex SBE reaction. The total SNP locus dropout rate was 2.8% and more than 50% of the dropouts were observed with the poor quality sample. The overall rate of discrepant SNP allele assignments was 2.0%. Two laboratories reported 60% of all the discrepancies. Two laboratories reported all 29 SNP alleles in all 10 positive samples correctly. The results of the collaborative exercise were surprisingly good and demonstrate that SNP typing with SBE, capillary electrophoresis and multicolour detection methods can be developed for forensic genetics.     

亲子鉴定中STR基因座的基因突变分析

目的探讨Identifiler^TM荧光标记复合扩增试剂盒15个STR基因座在亲子鉴定中的基因突变特点。方法应用Identifiler^TM荧光标记复合扩增试剂盒检测676例亲子鉴定案，对其中1～2个突变基因座加做HLA等位基因检测或Y—STR基因座检测。结果在认定亲子关系的676例中，观察1304次减数分裂，Identifiler^TM荧光标记复合扩增试剂盒中的15个基因座确定19例突变，其中D18S51基因座4例，D2S1338基因座3例，D8S1179、D16S539、vWA、D7S820、D13S317基因座各2例，D5S818和TH01基因座各1例，D21S11、FGA、D3S1358、D19S433、TPOX、CSF1P0基因座未见突变；一步突变的17例，二步突变的为1例，四步突变的1例；1个基因座发生突变的18例，2个基因座同时发生基因突变的为1例；突变来自父亲与来自母亲的比例为13：2，4例来源不能确定。结论用Identifiler^TM荧光标记复合扩增试剂盒检测到1—2个基因座发生突变，须增加对其它遗传标记的检测。     

大鼠心肌缺血后SERCA和PLB基因表达变化的观察

目的观察大鼠心肌缺血后，肌浆网钙调节蛋白SERCA和PLB基因表达水平变化，探讨其在早期心肌缺血诊断上的应用价值。方法25只大鼠随机分为正常对照组、缺血5、10、15min及缺血性猝死组，建立大鼠急性心肌缺血模型；利用荧光标记逆转录聚合酶链反应技术（RT—PCR）检测不同时间大鼠心肌缺血后，SERCA和PLB的基因表达变化，并与缺血性猝死组相比较。结果心肌缺血5min即可检测到SERCA和PLBmRNA表达相对下降，且随着缺血时间的延长，呈逐渐下降趋势，心肌缺血组与缺血性猝死组表达存在显著性差异。结论大鼠心肌缺血后SERCA和PLB基因表达变化呈一定规律性。对早期心肌缺血的诊断具有法医学意义。     

法医毒物动力学

本文作者针对法医毒理学的任务、发展趋势和面临的挑战，提出将法医毒物动力学列为法医毒理学新的分支学科，并阐述了法医毒物动力学的概念、研究目的和任务、研究对象、研究内容、研究方法、研究方向及亟待解决的问题。内容涉及毒物动力学、死后分布、动态分布、死后再分布、死后弥散、毒物分解动力学、毒物死后产生情况等。法医毒物动力学研究将解决中毒法医学鉴定中的许多问题，如尸体或活体中毒当时机体内毒物浓度的推断、死后腐败产生毒物与生前服毒的区别、生前服毒与死后染毒的鉴别、毒物进入机体时间、途径和方式的确定。     

104耳鼓膜穿孔耳内窥镜电脑成像系统分析

目的 研究耳内窥镜电脑成像系统在鼓膜穿孔法医学鉴定中的价值。方法 用耳内窥镜电脑成像系统,观察已明确诊断97例患者的104耳鼓膜穿孔,并分析不同性质鼓膜穿孔特点。结果 在97例104耳鼓膜穿孔中,外伤性鼓膜穿孔70耳,左44耳,右26耳,均为单侧,以三角形、梭形、裂隙形为主,多发生在前下象限;炎症性鼓膜穿孔 34耳,左19耳、右15耳,单侧20例,双侧7例,以圆形、类圆形为主,多发生在后下象限。结论 两种鼓膜穿孔在耳别、形态、部位等指标上有明显差异;用耳内窥镜电脑成像系统观察鼓膜穿孔,其结果客观、准确,易保存,可为鼓膜穿孔的法医学鉴定提供依据。     

铁路行车中人体坠落损伤特点分析

铁路行车坠落伤是在列车运行中，由于某种原因，使机体撞击地面和地面物体所造成的损伤”‘，周铁路上行车伤亡事故较常见的一类。由于人体离开列车的瞬间，受列车惯性运动的作用，使行车坠落伤比一般自由落体形成的坠落伤较为严重和复杂。本文通过对45例行车坠落伤的检验结果分析，讨论铁路行车坠落伤的损伤特点。材料和方法材料：从1992年1月一1997年4月我法医室尸检及活检档案中选出案情明确、有详细检验记录的行车坠落案件45例；其中尸检案件44例，活检案件1例。方洁：将45例检验按损伤部位、形态及坠落高度归类、统计，并制订成相应的…     

Identification of Cannabis sativa L. (Cannabaceae) using restriction profiles of the Internal Transcribed Spacer II (ITS2)

The paper describes the construction of a restriction profile of the Internal Transcribed Spacer II (ITS2) of Cannabis sativa L. Nuclear Ribosomal DNA, using digestion by a selected number of restriction endonucleases. The method was evaluated for false positives and it is suggested that it could be used to identify suspected Cannabis samples, by comparing their restriction profiles with the restriction profile of known Cannabis material.     

Critical aspects of social networks in a resettlement setting

Each year, more than 30 million people worldwide are displaced by disaster, development, and conflict. The sheer magnitude of displacement points to a need for wider application of social science theories and methodologies to the special problems posed by these crises. We are convinced that social network analysis of the structure and development of social relations can help to identify variables and patterns essential to maintaining or fostering social (re)articulation in resettlement. The research model we propose applies advances in network methodology to emerging theory on structural gaps in networks in the context of forced displacement and resettlement.