Identification by frontal sinus pattern in forensic anthropology

The authors report forensic cases from the literature, as well as two personal homicide cases, of identification through comparison of frontal sinus radiographs. A general discussion about identification using frontal sinus X-rays is presented, pointing out the reliability of the method, in reference to the uniqueness of the frontal sinus in humans, but also some difficulties, especially in reference to the distance, orientation and angle of the X-ray technique.     

DYS393多态性分析及其法医学应用

探讨了Y-DNASTR基因座DYS393的多态性及其法医学应用价值,用变性PAGE结合荧光DNA自动测序仪分析及非变性PAGE,结合银染显示两种PCR扩增产物的方法,并调查了广州地区120例汉族无关男性个体DYS393等位基因分布状况;在此基础上,建立了DYS393和HumARA两基因座的复合扩增体系,结果显示DYS393基因座共检出4种等位基因,复合扩增体系可同时提供性别鉴定和个体识别的信息.     

中国四川省汉族人群额窦CR片的同一认定

目的研究不同投照体位CR片上额窦用于同一认定的观测指标,以编制特异的识别编码.方法用两宽度比值与形态学描述相结合的方法观测额窦CR片,并采用描述性研究方法进行描述性研究和统计分析.结果以额窦不对称性AI、额窦与眼眶宽度之比RI、最大额窦宽度的侧别、额窦上缘弓形弯曲数目(左侧、右侧)、额窦部分隔数目(左侧、右侧)、额窦中间隔位置等8项指标,编制8位数字的额窦构型同一认定编码;额窦形态性别差异无统计学意义(P＞0.05).结论额窦形态高度个人特异,可以用于同一认定,但不能用作性别判断.     

青岛地区汉族人群13个STR基因座的频率分布及法医学应用

目的调查青岛地区汉族人群无关个体的13个STR基因座(D3S1358、VWA 、FGA、D8S1179、D21S11、D18S51、D5S818、D13S317、D7S820、D16S539、TH01、TPOX、CS FIPO)的基因频率分布,研究其遗传多态性及其在法医学个体识别及亲子鉴定中的应用价值 . 方法用美国ABI-310型遗传分析仪对Profiler Plus和Cofiler两个系统的13个STR基因座的复合扩增产物进行毛细管电泳及四色荧光自动分析检测,基因分型软件为GeneScan v3.1和Genotyper v2.5.2. 结果获得13个STR基因座在青岛地区汉族人群的基因频率分布数据,13个STR基因座的PIC>0.5,DP>0.71,CCE=0.999999,T DP值接近1,TPm=1.2×10-14,家系调查符合孟德尔遗传规律. 结论 Profiler Plus和Cofiler两个系统的13个STR基因座在法医学个体识别及亲子鉴定中具有较高的应用价值.     

青岛地区汉族人群13个STR基因座的频率分布及法医学应用

目的　调查青岛地区汉族人群无关个体的 13个STR基因座 (D3S135 8、VWA、FGA、D8S1179、D2 1S11、D18S5 1、D5S818、D13S317、D7S82 0、D16S5 39、TH0 1、TPOX、CSFIPO)的基因频率分布 ,研究其遗传多态性及其在法医学个体识别及亲子鉴定中的应用价值。　方法　用美国ABI - 310型遗传分析仪对ProfilerPlus和Cofiler两个系统的 13个STR基因座的复合扩增产物进行毛细管电泳及四色荧光自动分析检测 ,基因分型软件为GeneScanv3.1和Genotyperv2 .5 .2。　 结果　获得 13个STR基因座在青岛地区汉族人群的基因频率分布数据 ,13个STR基因座的PIC >0 .5 ,DP >0 .71,CCE =0 .999999,TDP值接近 1,TPm =1.2× 10 -14 ,家系调查符合孟德尔遗传规律。　结论　ProfilerPlus和Cofiler两个系统的 13个STR基因座在法医学个体识别及亲子鉴定中具有较高的应用价值。     

Assessing the potential application of X-chromosomal haploblocks in population genetics and forensic studies

Haploblocks are segments of the genome with little recombination that may be of interest in forensic and population genetics. Criteria to select autosomal haploblocks have been previously described, leading to the identification of candidate regions that, a priori, met the conditions to be used as forensic genetic markers. Still, the potential of X-chromosomal haploblocks remains unexplored.The present work aimed to provide basis for designing strategies for selection of X-haploblocks defined by single nucleotide polymorphisms (SNPs) using next generation sequencing approach. The potential application in population genetics and forensic studies was addressed. One of the conditions considered in the haploblock selection was the simultaneous inclusion of short tandem repeats (STRs) currently used in forensic casework to allow the distinction between SNP-defined haplotypes and increase the resolution for fine-scale studies. Given the size of the X chromosome (∼150 Mbps), only four haploblocks could be selected in order to guarantee their independence.     

Validation of the Investigator 24plex QS Kit: a 6-dye multiplex PCR assay for forensic application in the Chinese Han population

The Investigator 24plex QS Kit (QIAGEN, Hilden, Germany) is a 6-dye fluorescent chemistry short tandem repeat (STR) polymerase chain reaction (PCR) amplification system that simultaneously amplifies 20 of the expanded Combined DNA Index System (CODIS) core STR loci, SE33, DYS391, and the standard sex-determining locus, amelogenin, as well as two special internal performance quality sensor controls (QS1 and QS2), which are included in the primer mix to check the PCR performance. This study was designed to be a pilot evaluation of this STR-PCR kit in a Chinese Han population regarding the PCR conditions, sensitivity, precision, accuracy, repeatability, reproducibility, and concordance; tolerance to PCR inhibitors; applicability to real “forensic-type” samples; species specificity; mixture, balance and stutter analyses, and utility in a population investigation. The exhaustive validation studies demonstrated that the Investigator 24plex QS system is accurate, sensitive and robust for STR genotyping. In addition, these genetic markers in the population data in our study indicated that they can also be useful for forensic identification and paternity testing in the Chinese Han population.     

云南汉族人群11个Y-STR基因座遗传多态性调查及法医学应用

目的调查11个Y-STR基因座及其单倍型在云南汉族人群中的遗传多态性分布,探讨其法医学应用价值,为法医学应用提供基础数据。方法应用Powerplex!Y系统对云南汉族201名无关男性个体进行11个Y-STR基因座的复合扩增,用ABI310型基因分析仪对扩增产物进行检测,统计其群体遗传学参数。结果Powerplex!Y系统前10个Y-STR基因座分别检出3、5、6、8、5、4、5、8、4、7个等位基因,DYS385a/b基因座检出56种单倍型;GD值最低为0.4273(DYS438),最高为0.9747(DYS385a/b);观察到11个Y-STR基因座共同构成的单倍型175种,其中有154种单倍型只出现1次,16种出现2次,5种出现3次,累计GD值为0.9984。结论11个Y-STR基因座具有较强的个体识别能力,可应用于云南地区汉族人群的个体识别与亲权鉴定。     

Sexual dimorphism of the scapula and the clavicle in a contemporary Greek population: applications in forensic identification

Sex estimation is the grounds for an accurate identification of unknown human skeletal elements. The need for reliable methods distinguishing males from females based upon various skeletal elements is evident in cases of commingled, eroded and/or missing remains. The aim of this work lays on establishing criteria for sex estimation from the scapula and the clavicle in modern Greeks. A total of 147 left scapulae and 147 clavicles (66 females and 81 males) were used in the study. Eight and six measurements were taken on the scapula and clavicle respectively and data were subjected to principal components analysis (PCA) and discriminant function analysis (DFA). Posterior probabilities for the classification of each individual are also calculated. Statistical analysis was carried out using the software PAST (Paleontological Statistics) and SPSS (Statistical Package for Social Sciences) 18. The results supported the existence of pronounced sexual dimorphism, which was mainly attributed to size differences among the two groups. Univariate and multivariate methods of statistical classification showed high accuracy for all scapular and most clavicular measurements, verifying their value as sex indicators in the under study population. We recommend the use of this method for sex assessment from the scapula and the clavicle in cases exhibiting over 95% probability of correct classification. This is regardless of the overall high degree of accuracy reported here, as the method of choice in forensic contexts should always be case-driven.     

2个Y——STR基因座在成都汉族群体中的遗传学研究

目的为了寻求新的适合于法医学应用的Y染色体STR基因座,我们调查了基因座DYS442和DYS446在成都群体中的分布. 方法样本来自于成都地区汉族无血缘关系的个体,通过Chelex法提取样本DNA,利用PCR扩增硝酸银染色方法进行分型 . 结果 DYS442是一个四核苷酸简单重复基因座,而DYS446则为五核苷酸简单重复基因座.男性样本都出现了谱带,而女性样本则无PCR产物.DYS442基因座和DYS44 6基因座变异度分别为:0.6867、0.7552. 结论 DYS442和DYS446是非常适合于法医学应用的STR基因座.     

浙江汉族人群6个Y—STR基因座的遗传多态性调查及法医学应用

目的获得6个Y-STR基因座及其单倍型在浙江汉族人群中的遗传多态性分布,并探讨其法医学应用价值。方法应用Y-plex荧光标记复合扩增系统,对浙江汉族200名无关男性个体进行6个STR基因座的复合扩增,用ABI3100型基因分析仪对扩增产物进行检测,统计6个Y-STR基因座的群体遗传学参数。结果其中5个Y-STR基因座分别检出5、7、6、6、5个等位基因,DYS385基因座检出47种单倍型,GD值最低为0.4275(DYS391),最高为0.9584(DYS385);观察到6个Y-STR基因座共同构成的单倍型159种,其中有132种单倍型只出现1次,16种出现2次,6种出现3次,2种出现4次,2种出现5次,累计GD值为0.9967。结论6个Y-STR基因座具有较强的个体识别能力,可应用于浙江法庭科学中的个体识别与亲权鉴定。     

2个Y-STR基因座在成都汉族群体中的遗传学研究

目的　为了寻求新的适合于法医学应用的Y染色体STR基因座 ,我们调查了基因座DYS44 2和DYS44 6在成都群体中的分布。　方法　样本来自于成都地区汉族无血缘关系的个体 ,通过Chelex法提取样本DNA ,利用PCR扩增硝酸银染色方法进行分型。　结果　DYS44 2是一个四核苷酸简单重复基因座 ,而DYS44 6则为五核苷酸简单重复基因座。男性样本都出现了谱带 ,而女性样本则无PCR产物。DYS44 2基因座和DYS44 6基因座变异度分别为 :0 .6 86 7、0 .75 5 2。　结论　DYS44 2和DYS44 6是非常适合于法医学应用的STR基因座。     

中国汉族成人甲状软骨的性别判定

目的 建立中国汉族成人甲状软骨性别判别的函数方程。方法 对142例中国汉族成人甲状软骨(男73例,女69例)进行大体测量,选择7个性别差异非常显著的测量指标,然后采用Fisher判别分析法和Bayes逐步判别分析法,建立判定甲状软骨性别的系列判别函数。结果 建立了13个甲状软骨的性别判别方程,完整或大部分完整的甲状软骨性别判别准确率均达100％,残缺的达90％。结论 中国汉族成人甲状软骨性别差异明显,运用所建方程能够判定甲状软骨的性别。     

Genetic data of 15 STR forensic loci in eastern Chinese population

Allele frequencies for the 15 short tandem repeats (STR) loci D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, CSF1PO, TH01, D16S539, D2S1338, TPOX D19S433 (AmpFLSTR Identifiler) were determined in a population sample of unrelated individuals living in eastern China.     

Philippine population database at nine microsatellite loci for forensic and paternity applications

Allele frequency distributions for a Filipino population from the National Capital Region (NCR) were determined for eight STR loci: HUMF13A01, HUMFES/FPS, HUMvWA, HUMFOLP23, HUMD8S306, HUMCSFIPO, HUMTPOX and HUMTHO1; and a VNTR locus: D1S80. Statistical analysis showed that the nine loci showed no deviations from Hardy-Weinberg and linkage equilibrium rules. The average power of paternity exclusion for the nine loci is 0.9962 and the discriminating power is 1-2 x 10(-9). The data obtained from this study will be used as reference data for forensic DNA typing in the Philippines.     

Extraction of the relevant population from a forensic database

Evaluation of forensic evidence using Bayesian statistics requires the formulation of hypotheses. Many hypotheses, especially those presenting the defence viewpoint imply that traces can be attributed to an arbitrary member of a relevant population. The exact items or persons that comprise the relevant population may vary from case to case. Therefore, the statistical evaluation of evidential value based on databases cannot make use of a fixed set of items or persons. In the current paper, methodology is presented to filter the contents of a database such that only items that are considered relevant are selected. Six scenarios, including those related to fibre, textile, and glass evidence are described, together with the hypotheses and relevant populations that may be evaluated by an expert. In addition, we show how items representing the defined relevant population can be extracted from a database using SQL code. Images of the items in the (filtered) relevant population provide an overview of the selected items and hence direct feedback to the examiner. In this way, erroneous codes or unwanted side effects can be identified and corrected. It is concluded that the filtering procedure is effective in cases where the relevant population is demarcated accurately.     

中国汉族人群17个Y-STR基因座突变情况分析

目的 调查分析17个Y-STR基因座等位基因突变的情况.方法 收集中国汉族人群867对父子共1 649份男性血样本.采用YfilerTM复合扩增试剂盒进行17个Y-STR基因座分型,共检测出14 739次等位基因传递,统计各基因座发生等位基因突变的频率.结果 在17个基因座中发现涉及13个基因座共41次突变,其中一步突变40次(97.6％),两步突变1次(2.4％);突变共涉及40对父子,其中39对仅1个基因座发生突变(97.5％),1对同时有2个基因座发生突变(2.5％);平均突变率为2.8×10-3(95％CI 2.0～3.8×10-3).等位基因突变时获得重复单位数19次,丢失重复单位数22次,两者比例接近.结论 中国汉族人群Y-STR基因座突变可涉及多数基因座,突变率在2.8×10-3左右,在数据库的建立与应用中应重视,注意采用相关方法进行甄别.     

中国汉族人mtDNA控制区异质性遗传规律

目的探讨中国汉族人mtDNA控制区异质性分布情况和遗传规律。方法将人mtDNA控制区扩增成6个部分互相重叠的片段,利用已建立的DHPLC技术分析其异质性规律。结果对150例汉族无关个体的多种组织检测,发现异质性个体的发生率达34%(51/150);个体的组织mtDNA异质性检出率最高为脑(50/150)、心肌(48/150)、最低为骨骼(22/150);本组共发现mtDNA控制区异质性位点有36个;同一个体可有多个异质性位点,最多的不超过3个;未发现异质性发生率有性别差异;超过41岁的高年龄组的异质性发生率(27/59)高于低年龄组(24/91);同一个体在2年前后取的血样,异质性检测结果一致;同一母系不同成员的异质性位点相同,但异质性mtDNA的含量有差异。结论DHPLC检测mtDNA控制区异质性具有高分辩力;mtDNA控制区异质性在中国汉族人中广泛存在;上述结果可作为mtDNA控制区多态性作个人认定和亲权鉴定的指导性资料。