DNA profiling of disaster victim identification in Trenggalek shipwreck case

DNA analysis is one of the primary methods of identification in DVI practices. The external environment of a mass disaster often results in severe fragmentation, decomposition and intermixing of the remains. However, DNA profiling still can be achieved even on cases involving partial, severely decomposed remains. This report shows the DNA profile of shipwreck victims using identifiler plus marker from tissue sample exposed to environmental conditions.     

Frequency assessment of SNPs for forensic identification in different populations

Allele frequencies for 16 previously described autosomal SNPs were tested in 1020 unrelated individuals originating from three different continents (Africa, Asia and Europe). The populations analyzed included Africans from Benin Gulf (180), Asians from Mongolia (160) and Europeans from Italy (680).     

Implantation of radio frequency identification device (RFID) microchip in disaster victim identification (DVI)

The tsunami catastrophe of December 2004 left more than 200,000 dead. Disaster victim identification (DVI) teams were presented with the unprecedented challenge of identifying thousands of mostly markedly putrefied and partially skeletised bodies. To this end, an adequate body tagging method is essential. Conventional body bag tagging in terms of writing on body bags and placing of tags inside body bags proved unsatisfactory and problem prone due to consequences of cold storage, formalin (formaldehyde) embalming and body numbers inside storage facilities. The placement of radio frequency identification device (RFID) microchips inside victim bodies provided a practical solution to problems of body tagging and attribution in the DVI setting encountered by the Austrian DVI team in Thailand in early 2005.     

The contribution of DNA to the disaster victim identification (DVI) effort

As part of the disaster victim identification (DVI) response to the 2009 Victorian bushfires disaster, a number of scientific disciplines contributed to the human identification process--forensic pathology, anthropology and odontology, as well as fingerprinting and DNA profiling. The DNA laboratory received 182 post-mortem (PM) samples from 120 DVI cases and 236 reference samples corresponding to 163 missing persons (and two non-DVI cases). DNA analysis yielded full DNA profiles for 102 DVI cases and 190 ante-mortem (AM) samples (relating to all 163 missing persons), respectively. Subsequent comparison of DNA profiles, through direct and kinship matching, resulted in the submission of 76 DNA reports to the DVI Reconciliation Centre which assisted in the identification of 67 deceased. This paper describes the contribution of DNA analysis towards the DVI response to the 2009 Victorian bushfires disaster.     

Phylogeographic investigations: the role of trees in forensic genetics

The human mitochondrial DNA (mtDNA) genome is commonly analyzed in various disciplines, such as population, medical, and forensic genetics, but conceptual and scientific exchange between them is still limited. Here we review several aspects of the mtDNA phylogeny that are particularly--but not exclusively--of interest to the forensic community. Among the issues that arise, we emphasize the importance of integrating evolutionary concepts into the forensic routine. We also discuss topics such as mtDNA mutation-rate heterogeneity and the weight of evidence, ethnic affiliations of mtDNA profiles, and the abuse of reference databases. Finally, we show the usefulness of coding-region variation in a forensic context.     

快速突变Y-STRs分子标记的法医遗传学研究进展

Y染色体短串联重复序列在性犯罪案件及父系亲缘关系鉴定中具有特殊的应用价值,但是,采用常规标准的Y-STRs尚不能区分同一父系来源的男性个体。13个快速突变Y-STRs被证明可以相对提高男性谱系分化的分辨率和同一父系男性个体的相对分离,拓展了Y-STRs在法庭科学领域的应用范围和价值。     

法医遗传学研究新进展

法医遗传学经过近30年发展,已经形成了一套系统的理论和技术体系,相关技术和方法在实际工作中发挥着重要作用。随着实际应用需求的变化和相关基础学科研究的进展,法医遗传学的研究也出现了新变化。本文针对法医遗传学领域的研究进展和发展趋势进行综述,希望能对相关研究和实践提供参考和借鉴。     

30个 InDels在中国三个民族的遗传学调查及法医学应用

目的调查Qiagen Investigator@ DIPplex试剂盒30个InDels多态性位点在中国汉族、藏族、维吾尔族人群中的群体遗传学数据,评估其法医学应用价值。方法采集汉、藏、维吾尔族各90名无关个体静脉血,提取DNA。使用3130xL毛细管电泳对该270份样品进行分型,通过统计计算相关的群体遗传学参数。结果实验得到270份样品的分型及基因型频率,30个InDels未明显偏离Hardy-Weinberg平衡及连锁平衡,在汉族、藏族、维吾尔族三个人群中的随机匹配概率分别为1.42×10（-11）、7.19×10（-12）、4.74×10（-13）,累积非父排除率（CPE）均大于0．9951。结论该组插入缺失位点在中国的汉族、藏族、维吾尔族人群中具有较高的多态性,能达到较高的个体识别能力,可以作为现有STR检验体系的补充。     

Estimating the probability of allelic drop-out of STR alleles in forensic genetics

In crime cases with available DNA evidence, the amount of DNA is often sparse due to the setting of the crime. In such cases, allelic drop-out of one or more true alleles in STR typing is possible. We present a statistical model for estimating the per locus and overall probability of allelic drop-out using the results of all STR loci in the case sample as reference. The methodology of logistic regression is appropriate for this analysis, and we demonstrate how to incorporate this in a forensic genetic framework.     

Basic forensic identification of artificial leather for hit-and-run cases

Single fibers retrieved from a victim's garments and adhered to the suspect's automobile have frequently been used to prove the relationship between victim and suspect's automobile. Identification method for single fiber discrimination has already been conducted. But, a case was encountered requiring discrimination of artificial leather fragments retrieved from the victim's bag and fused fibers from the bumper of the suspect's automobile. In this report, basic studies were conducted on identification of artificial leathers and single fibers from leather materials. Fiber morphology was observed using scanning electron microscopy (SEM), color of these leather sheets was evaluated by microspectrophotometry (MSP), the leather components were measured by infrared micro spectrometry (micro-FT-IR) and the inorganic contents were ascertained by micro-X-ray fluorescence spectrometry (micro-XRF). These two methods contribute to other analytical methods too, in the case of utilized single fiber analytical methods. The combination of these techniques showed high potential of discrimination ability in forensic examinations of these artificial leather samples. In regard with smooth surface artificial leather sheet samples, a total of 182 sheets were obtained, including 177 colored sheets directly from 10 of 24 manufacturers in Japan, and five of them were purchased at retail circulation products. Nine samples of suede-like artificial leather were obtained, 6 of them were supplied from 2 manufacturers and 3 sheets were purchased as retailing product. Single fibers from the smooth surface artificial leather sheets showed characteristic for surface markings, and XRF could effectively discriminate between these sheets. The combination of results of micro-FT-IR, color evaluation by MSP and the contained inorganic elements by XRF enabled to discriminate about 92% of 15,576 pairs comparison. Five smooth surface samples form retailing products were discriminated by their chemical composition into four categories, and in addition color information to this result, they were clearly distinguished. Suede-like artificial leather sheets showed characteristic extra-fine fibers on their surface by the observation of SEM imaging, providing high discriminating ability, in regard with suede-like artificial leather sheets were divided into three categories by micro-FT-IR, and the combination of these results and color evaluation information, it was possible to discriminate all the nine suede-like artificial leather sheets examined.     

个体识别SNPs位点组合筛选与法医学应用价值初探

目的筛选用于包括中国主要民族在内的多个群体个体识别的SNPs位点组合体系。方法以Kidd实验室筛选的86个SNPs位点、欧洲SNPforID组织构建的52-plex SNPs复合检测体系为基础,收集和整理这些位点在HapMap数据库中11个人群的分型数据,计算各位点杂合度和Fst值,筛选杂合度〉0.4,Fst值〈0.06,并在研究人群中处于Hardy-Weinberg和连锁平衡的位点组合。针对这些位点,采用MassARRAY分子阵列技术对自行收集的8个人群（尼日利亚人、坦桑尼亚查加人、印度人、丹麦人、俄罗斯汉特人、中国汉族、藏族、维吾尔族）308份样本进行分型,统计群体遗传学参数。结果按本文标准共筛选出66个SNPs位点,均符合Hardy-Weinberg平衡,之间互不连锁,平均杂合度和Fst值分别为0.475、0.014。在本文收集的8个人群中的随机匹配概率在1.45E-24~4.72E-27之间,累积非父排除率为0.999 995 608~0.999 997 876之间。结论本文筛选的SNPs组合系统具有较强的个体识别能力,可用于本文调查的HapMap数据库中11个人群和本文收集的8个人群的个体识别鉴定。     

Evidence based strategy for normalization of quantitative PCR data,in forensic miRNA-analysis

Micro-RNA (miRNA) based analysis of body fluids and composition of complex crime stains has recently been introduced as a potential and powerful tool to forensic genetics. Analysis of miRNA analysis has several advantages over mRNA but reliable miRNA detection and quantification using quantitative PCR requires a solid and forensically relevant normalization strategy. In our study we evaluated a panel of 12 carefully selected reference genes for their suitability as endogenous controls in miRNA qPCR normalization in forensically relevant settings. We analyzed assay performances and variances in venous blood, semen, menstrual blood, saliva and vaginal secretion and mixtures thereof integrating highly standardized protocols with contemporary methodologies and included several well established computational algorithms.Based on these empirical results, we recommend normalization to the group of RNU24, RNU43, and RNU66, as this signature exhibits the most stable expression levels and the least expected variation among the evaluated candidate reference genes in forensically relevant body fluids. To account for the lack of consensus on how best to perform and interpret quantitative PCR experiments, our study's documentation is according to MIQE guidelines, defining the “minimum information for publication of quantitative real-time PCR experiments”.     

体液法医学鉴定miRNA检测方法的建立与应用

目的建立针对体液特异性miRNA的SYBR Green检测方法,用于体液鉴定,探究法医实践中体液鉴定新方法。方法根据文献选出6条miRNAs为靶点,以合成的标准miRNA作为模板进行体系构建,再对实际样本进行验证,检测6条miRNAs在外周血、月经血、唾液、精液中的相对表达量。结果 miRNAs205在不同体液间表达差异不明显;miRNAs451、miRNAs144可明显的区分血与非血;miRNAs214可鉴定月经血;miRNAs888、miRNAs891在精液中高表达。结论建立的针对miRNAs的SYBR Green检测方法合理有效,可用于法医实践中体液鉴定。     

MRI在膝关节细微骨折法医学鉴定中的应用价值

目的探讨膝关节细微骨折的MRI表现及其在法医学鉴定中的应用价值。方法分析24例经MRI诊断并经CT及临床证实的膝关节细微骨折的MRI表现,并与CT和X线检查结果进行比对。结果24例患者中X线仅检出2处骨折,CT检出27处,MRI检出31处骨折;其中MRI诊断同一患者2处以上骨折共有5例。所有骨折均无明显分离或错位,T1WI STIR和FE-T2WI序列是显示细微骨折的最佳序列。结论MRI能明确诊断膝关节细微骨折,为法医学鉴定提供有力的依据。     

外伤性脑梗塞法医学鉴定55例分析

通过对近5年来55例外伤性脑梗塞法医学鉴定案例资料的收集整理,并就其临床表现、影像学表现特点、发病机制、以及法医学损伤程度鉴定等问题进行分析,探讨颅脑外伤与梗塞的关系。     

线粒体16srRNA和ND4基因在种属鉴定中的应用研究

目的构建一种用于种属鉴定的线粒体DNA(m tDNA)16 srRNA和ND4基因荧光标记复合扩增检测体系。方法利用引物设计软件(Prim er 5)对两个m tDNA序列ND4基因和16 srRNA基因设计两对引物,每对引物中的一条在5’端标记荧光素(6-FAM)。按传统复合扩增技术建立复合扩增体系,用AB I PR ISM 310基因分析仪对产物进行分析。结果人类DNA扩增产物出现两个峰,片段大小分别为110bp的人类特异片段和149bp的人与动物共有片段,而动物DNA扩增产物出现一个峰,片段大小为149bp。对30个实验室存放5~15年的陈旧人血痕也能明确判断其种属来源。结论该体系可以明确区分人源性生物检材与其它常见动物样本,对实验室长期存放的陈旧检材也具有较好的检测能力。