DNATyper^TM21试剂盒的法医学验证

目的测试DNATyper^TM21试剂盒的技术性能指标,评估其法医学应用价值。方法从灵敏度、种属特异性、准确性、耐受性、适应性、一致性、均衡性、混合样本、稳定性等九个方面对该试剂盒进行测试。结果DNATyper^TM21具有良好的种属特异性、准确性、适应性、均衡性和稳定性,试剂盒的灵敏度达到0.125ng,能检测案件中常见的不同类型的检材,对降解检材及抑制剂具有一定的耐受性,能检测4:1比例的混合DNA样本并得到正确分型。结论DNATyper^TM21试剂盒的性能指标达到了STR检测试剂盒的技术水平,可用于个体识别、亲权鉴定及法医遗传学分析。     

Data for Y-chromosome haplotypes in Fang and Bubi populations from Bioko (Equatorial Guinea)

Haplotype frequencies for 16 Y-chromosomal short tandem repeat (DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y GATA H4, DYS437, DYS438 and DYS448) loci, included in the AmpFLSTR Yfiler PCR Amplification Kit, were analysed in 110 Fang and 133 Bubi individuals from Bioko Island, Equatorial Guinea. The diversity was higher in Fang population, probably since they were originally from the mainland, with which they maintain tribal village and family links, and to which they travel frequently. Comparisons were made with previously published haplotype data on European and African populations, and significant differences were found between them.     

D20S161和D8S384两个基因座在法医学中的应用

评估D2 0S16 1和D8S384两个基因座在法医学中的应用价值。用自制的D2 0S16 1和D8S384两个DNA分型试剂盒 ,对人血、人精液、人唾液、动物血、人血与动物血的混合检材和人血痕、人精液斑、人唾液斑、动物血痕、人血与动物血的混合斑痕检材 ,以及陈旧血痕检材进行检测分型 ,并用这两个基因座PCR引物序列与DNA数据库进行联网对比分析。自制的D2 0S16 1和D8S384两个DNA分型试剂盒能对人血、人精液、人唾液、人血与动物血的混合检材分型 ,而动物血没有PCR产物 ;自制的D2 0S16 1和D8S384两个DNA分型试剂盒能对人血痕、人精斑、人唾液斑和人血与动物血的混合斑痕检材正确分型 ,而动物血痕没有PCR产物 ;斑痕检材分型结果与对应体液检材分型结果无差异 ;5 0份陈旧血痕检材全部获得阳性分型结果。DNA数据库联网比较提示 ,D2 0S16 1和D8S384基因座引物除了能与各自的模板序列发生特异性扩增外 ,理论上不能与DNA数据库中 6 0 6 36 4种已知序列产生PCR产物。D2 0S16 1和D8S384两个基因座具有高度的种属特异性 ,抗污染能力强 ,不易受降解的影响 ,是解决法医现场生物检材个人识别和亲子鉴定的理想手段     

Establishment of 43-plex SNP Typing System and Its Forensic ApplicationCSCD

Objective: To evaluate the application of 43 -plex SNP typing system in forensic science. Methods: The typing of 43 SNP loci in 123 unrelated Han individuals from East China was detected by MALDI-TOF-MS. The application value of 43-plex SNP typing system was assessed according to the forensic parameters of population genetics. Results: All the 43 SNP loci of 123 individuals showed no significant departure from Hardy-Weinberg equilibrium (P>0.05). Excepted rs1355366, rs2270529, rs10776839 and rs938283, there were 39 SNP loci had minor allele frequencies (MAF), which were greater than 0.25. Among the 25 loci MAFs, 24 ranged from 0.4 to 0.5, while 3 were close to 0.4. The DP, CDP, PIC, Ho, PEtrio and PEduo of the 43 SNP loci were 0.290 1-0.654 4, 1-9.8×10-11, 0.170 8-0.500 0, 0.155 7-0.593 5, 0.085 4-0.250 0 and 0.014 6-0.125 0, respectively. The CPEtrio and CPEduo were 0.999 986 and 0.992 436 1, respectively. Conclusion: The 43-plex SNP typing system in present study shows a high polymorphism, which can be an effective supplement and verification for traditional STR genetic markers. It also can be used with other commercial kits for the forensic paternity testing and individual identification. © 2018 by the Editorial Department of Journal of Forensic Medicine.     

Y- STRs and forensic parameters in African populations

Short Tandem Repeat polymorphisms have been widely studied in the world, since specific databases are required to produce correct estimates of forensic statistical parameters. In this regard, Y-chromosome STRs have been studied mainly in Europe but are relatively scarce for sub-Saharan populations, despite these populations are represented in most of the Western countries. The aim of this work is to detect groups of populations with the lowest genetic variability within the African context. This allows to establish the relative homogeneity of Y-STRs databases for forensic casework and eventually to provide a wider insight into the African genetic history.     

Dissecting the Finnish male uniformity: The value of additional Y-STR loci

The forensic use of Y-chromosomal markers can be hampered by reduced diversity and geographical subdivision in some populations. In Finland both of these confounding factors are well documented, but it is also shown that increase of data could resolve or at least alleviate these problems. In order to increase the forensic usability of Y-chromosomal data in Finland, we have here evaluated the diversity at a number of additional Y-STRs. A seven Y-STR locus panel (“FY7”: DYS449, DYS460, DYS505, DYS522, DYS576, DYS612 and DYS627) was found to reveal higher diversity levels among Finns than the substantially larger commercial multiplexes commonly in use. The Y-STR data augmented with the FY7 panel shows substantially higher discrimination capacity and lower levels of geographical structure among Finns. Amplifiable in one multiplex, this set of loci offers an informative and easy-to-use supplementary for the commercial Y-STR kits.     

Correlation of surnames and Y-chromosome in Central-Brazil

In patrilineal societies, surnames and Y-specific haplotypes and haplogroups are expected to be correlated. This characteristic could help defining an initial pool of suspects in forensic genetics analysis. Here we evaluated this correlation in a sample of Central-Brazilian men. Surnames and Y-SNP haplogroup and Y-STR haplotype were analyzed in 55 pairs of Central-Brazilian men sharing surnames (n = 110). Seven haplogroups and thirty-two haplotypes have been observed, none correlated solely to any of the twenty-eight surnames represented here. In this sample, two men with the same surname showed a chance of 0.41 of sharing a Y-specific haplogroup. This chance is higher for surnames of intermediate frequencies, whereas rare surnames show distinct chances as zero and one. Observed results may be over-estimated due to a predominance of a specific haplogroup (P92R7 = 49%) in the sample, what makes it possible for two men with no coancestry to share this haplogroup. Considering STR, only three pairs of men shared haplotypes. The average difference between the haplotypes in each pair was 2.45 mutational steps. This relatively low correlation is due to some historical and cultural peculiarities of the country, what makes it improper for forensic purposes in Brazil.     

SNP分型方法及在法医学等领域的应用

随着单倍型图的产生,SNP越来越受到关注。不仅仅在Y染色体和线粒体,常染色体和X染色体上的SNPs的应用潜能也将被发现。SNPs具有比较低的突变率和适合于降解DNA分析的特点,在法医学领域也受到关注。本文综合介绍了SNPs和X-SNPs的一般特性、分型方法及其在法医学的应用。     

Successful validation of a fully automated sample lysis workstation

The Netherlands Forensic Institute recently validated a fully automated system for sample lysis, the AutoLys workstation and AutoLys tubes, developed in collaboration with Hamilton Robotics. We have carried out the developmental validation of the AutoLys system and concluded it offers a solution to drastically reduce user-errors, increase DNA yields, gain in productivity, while maintaining quality. This article reports on the study setup and discusses the results of comparing the AutoLys workstation to the conventional (manual) method. The AutoLys system proved to successfully process all commonly found forensic sample types, producing high quality extracts, containing on average 12.1% more DNA than manually extracted samples (as determined by qPCR and STR-profiling). The optimized robotic protocol minimizes the risk on cross-contamination (no cross-contamination detected in over 500 samples tested) and retains the flexibility to adjust chemically relevant variables specific to a laboratory's individual requirements. The fully automated process enables complete sample-tracking, drastically reducing the risk on user-errors. The NFI is currently validating an on-deck magnetic bead-based purification of the lysates.     

中国蒙古族群体mtDNA测序的聚类分析及其法医学意义

目的建立一种既节省模板、又能延长测序长度的m tDNA单倍型(群)分析方法,构建中国蒙古族mtDNA单倍型类型关系树。方法用复合扩增、巢式PCR对201名中国蒙古族m tDNA样本进行D-环区、3010~3460、4640~5204、10171~10659和14478~15204编码区域的测序分析,部份样品进行L3953/H4508等区域的测序;根据其多态界定各样本单倍型并进行聚类分析。结果L15996/H107等巢式PCR扩增产物经测序检验结果互不干扰,其分型以A等东亚人群常见的单倍型(群)为主,包括部份HV、K、J、I和U等欧洲人群优势单倍型(群),23个单倍群和共53个单倍型全部归为欧亚人群特有的M和N两大类单倍类群并呈巢式聚类。结论本研究选取的测序区域适用于构建我国各民群的m tDNA单倍型(群);复合扩增、巢式PCR法既节省模板DNA,又延长测序的长度,适用于法医学、考古学研究中的微量样本的检测。     

220例损伤导致精神障碍损伤程度的法医学鉴定

研究损伤导致精神障碍损伤程度的评定标准。对 1986年 7月～ 2 0 0 0年 7月受理的精神损伤司法鉴定 2 2 0例资料进行回顾性研究。结果显示 :男女比例无差异 ;以中青年组居多 (占 5 5 % ) ;职业以工人、农民多见 ,损伤原因多为伤害和交通事故 (占 82 % ) ;鉴定时间以 1年内为佳。损伤与精神障碍间有直接因果关系者 110例 ,有间接因果关系者 6 9例 ,两者间条件相关者 35例 ,无相关者 6例。对有相关关系的 2 14例作损伤程度评定 ,重伤 91例 ,轻伤6 8例 ,仅就伤病关系作出评定者 5 5例。损伤导致精神障碍的损伤程度应具体案情具体分析 ;对颅脑外伤所致神经症的损伤程度评定提出可操作性的意见。     

World War One Italian and Austrian soldier identification project: DNA results of the first case

We report the results of an attempt to identify the supposed remains of a famous World War I (WWI) Italian soldier who was killed in battle along the Italian front in 1915.Thanks to the availability of offspring from both paternal and maternal lineage Y-STRs and mtDNA were analysed and both showed a clear exclusion scenario: the remains did not belong to the supposed war hero.This is the first effort of identification of the remains of soldiers who perished during World War I within a multidisciplinary project aimed at the retrieval of historical and cultural aspects linked to WWI, and the systematic study of the remains of soldiers and ultimately their identification. This last step involves both Italian and Austrian laboratories.     

论法庭证据评估体系的发展

随着法律和科学的发展,人们对部分传统的法庭科学产生了质疑。本文探讨了传统法庭证据检验的弊端和目前国际上法庭科学证据的接纳原则,推出了似然比法庭证据检验评估体系,包括似然比对证据强度的量化方法、检验结论的科学解释方法和法庭识别系统可靠性的评估方法。     

32例妊娠期死亡法医病理学研究

目的　探讨妊娠死亡的特点。　方法　对 1990～ 2 0 0 0年间华西医科大学法医学院所做 3 2例妊娠死亡尸检病例进行分析。　结果　妊娠产妇死亡年龄以 2 5～ 3 0岁为多见 ,职业以农民常见 ,且绝大多数无产前检查记录 ,死亡多发生于分娩过程中 ,区、乡一级卫生院多发。前四位的死因依次为 :胎盘残留、输卵管妊娠破裂、产后感染和子宫血管结扎出血 ,绝大多数妊娠产妇死亡前产下活婴。　结论　有必要加强基层与农村医疗保健工作和制订有关的预防措施 ,以降低妊娠产妇的死亡率。     

法庭科学的表述与法律证明

法庭科学评价意见在法庭上陈述的方式应当与法官所要求、陪审团实际应用的刑事证明程序相兼容。这并非一个数值性的归纳过程,而是在探求排除合理怀疑证明标准下的“最佳解释推理”。面临的问题并不是控方主张的数学概率问题,而是在全面考量了法庭上出示的所有证据后,控方主张是否为唯一可解释假说的问题。为确保陪审团仍然能专注地运用这一法律证明标准,笔者主张,控方提出的评价性法庭科学证据不应当以似然比的形式在强调若控方主张为真便更有可能认定证据,而应聚焦于本方证据对辩方有利的解释范围并在被告被定罪之前排除掉所有这些解释的合理可能性。     

激光喇曼光谱在物证分析中的应用

在侦察工作中,要想及时地揭露犯罪和有效地证实犯罪,就必须准确地鉴别微量物证。激光喇曼技术是研究分子结构的重要手段之一,在分析和鉴定微量的纤维、橡胶、塑料、涂料、爆炸物、油墨和墨水等物证时,有很大的优越性。     

窒息死亡的法医病理学分析

目的探讨窒息死亡的法医病理学特点。方法对四川大学华西法医学鉴定中心1982年10月1日～2006年9月30日所作160例窒息死亡尸体剖验病理材料进行统计分析。结果窒息死亡案例占整个法医学检案的9.9%,年龄:30～39岁的死者占整个研究对象的29.4%,平均年龄为31.25岁。性别:男性103例,女性57例。男女比例1.81∶1。死亡方式:意外死亡最多(63.1%),其次为自杀(24.4%)和他杀(12.5%)。死亡原因:缢死最多(21.9%),其次为CO中毒(17.5%)、溺死(16.25%)等。医疗纠纷共计39例,均为新生儿窒息,主要发生在乡镇医院和县级医院(76.92%)。结论加强法制教育,提高安全隐患意识等是减少窒息死亡的重要手段。提高城乡医疗水平,加强窒息急诊抢救的临床技能是防止窒息引起医疗纠纷的关键。     

与医源性相关的输卵管妊娠破裂死亡法医病理学研究

目的探讨输卵管妊娠破裂死亡的特点。方法对1990—2005年10月间华西医科大学法医学院14例输卵管妊娠破裂死亡尸检病例进行分析。结果死亡病例以31￣34岁之间居多,职业以农民、个体户、待业多见。孕次和流产的关系分析表明,其妊娠破裂以生育过、怀孕2￣4次、流产2￣4次居多。危险因素以宫内安置节育环、不育症为主。输卵管妊娠死亡多发生在区级医院及个体卫生所,以菌痢治疗多见。尸解所见均为腹腔积血,病理观察见绒毛组织结构,且符合失血性休克的病理改变。结论孕龄期妇女应注意月经期,出现闭经及腹部不适症状应急时到医院做检查,医院同时应做HCG检查及B超检查以便做出正确诊断及治疗。     

眼球钝挫伤的法医学研究及其临床意义

眼球钝挫伤在临床上比较多见，且大多涉及法律问题，本文将眼球钝挫伤进行临床分型，通过对４３例法医学鉴定案例分析，发现眼球钝挫伤的损伤规律及法医学特点，并就与法医学有关的临床问题展开讨论，提出了作者的看法和建议。     

Forensic anthropology in the global investigation of humanitarian and human rights abuse: Perspective from the published record

Forensic anthropologists have played key roles in the historical development of forensic science applications to global humanitarian and human rights issues. These anthropological initiatives can be traced back to the Smithsonian seminar organized by T. D. Stewart in 1968 and published in 1970. Key developments include the 1984 delegation sent by the American Association for the Advancement of Science to Argentina and the formation of the Argentine Forensic Anthropology Team. Subsequent highlights include major anthropological involvement in support of investigations by international criminal tribunals, formation of forensic anthropology teams in different countries and activities of the International Commission of Missing Persons and the forensic unit of the International Committee of the Red Cross. Recent developments feature the formation of the Humanitarian and Human Rights Resource Center of the American Academy of Forensic Sciences and its support of worthwhile projects in many countries. The published record provides historical perspective on these developments.