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.     

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.     

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.     

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。     

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。     

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.     

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.     

The history of the forensic applications in radiology

The history of progress in any field of science is related directly to technical advances which have occurred during that period. The microscope contributed immensely to the advancement of forensic investigations in the late 19th century, with its use to study trace evidence including blood, semen, soil, paint, and biological material. The application of the discovery of x-radiation by Dr. R?entgen of Würzburg, Germany, in 1895 provided an important new tool for medical practitioners throughout the world. Its application was also realized as a potential weapon by medicolegal investigators. Discovery of the location of foreign objects, including bullets, thus became a clinical as well as a forensic technique in support of the investigation of living and deceased persons. The early application of x-ray methodology in England in 1896 by Prof. Arthur Schuster of Owens College, Manchester, in a case of a gunshot wound of a woman, is described as well as some aspects of the primitive technique which were used.     

The function of self-harm behavior in a forensic population

This article examines the functions of self-injurious behavior (SIB) in forensic populations. The cases of four individual offenders who have engaged in SIB are presented. These cases depict the four main functions of self-harm behaviors including (a) suicidal intent, (b) manipulation of the environment, (c) emotion regulation, and (d) a response to psychotic delusions or hallucinations. Assessment and treatment implications are discussed.     

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。     

中国汉族女性青少年法医学活体骨龄推断数学模型的建立

目的建立推断中国汉族女性青少年活体骨龄的数学模型。方法摄取华中、华南及华东等地区的838名年龄介于11～20周岁正常女性青少年双侧锁骨胸骨端以及左侧肩、肘、腕、髋、膝、踝关节的X线片。依据青少年骨发育分级标准对24项骨骼发育指标进行阅片、分级,结合考虑身高、体质量及地区等影响因素．应用SAS8．1及SPSS11．0软件进行统计学处理,探索各指标与年龄的相关性。结果建立了我国汉族女性青少年利用锁骨胸骨端及6大关节骨骺闭合程度联合推断活体年龄的多元回归数学模型．推导出判定我国汉族女性青少年是否已满14、16和18周岁的Fisher’S两类判别分析方程。结论本研究所建立的判定活体年龄的数学模型丰富了活体年龄的法医学鉴定方法,有利于提高活体骨龄鉴定方法的科学性和结论的准确性。     

Myotonic dystrophy CTG repeats in an Italian population sample: evaluation of the polymorphism for forensic applications

The myotonic dystrophy (DM) CTG repeat polymorphism has been studied in an Italian population sample. Polymerase chain reaction (PCR) amplification, manual polyacrylamide gel electrophoresis (PAGE), and silver staining were employed. Alleles were typed by comparison with a sequenced allelic ladder. A total of 25 different alleles, spanning the range from 5 to 31 CTG triplets, was observed. The heterozygosity was 79%, and no significant deviation from Hardy-Weinberg equilibrium was found. Eighty-one meioses from parentage testing were also analyzed, and a Mendelian pattern of inheritance was observed in all cases. In addition, we could successfully type the DM locus in 20 laboratory-prepared bloodstains, with 1 ng of DNA allowing clear definition of alleles. We conclude that the CTG repeats at the DM locus may be useful for forensic applications.     

中国汉族人群的线粒体DNA控制区多态性研究

探讨mtDNA多态性在法庭科学中个体识别的理论基础。应用PCR扩增产物直接测序方法 ,对 111名中国北方地区汉族人群无血缘关系个体的mtDNA控制区 (HVⅠ和HVⅡ )进行测序分析。在高变区Ⅰ 15 998～ 16 40 0之间发现 10 2处碱基变异 ,10 3个mtDNA单倍型 ;在高变区Ⅱ 0 0 0 35～ 0 0 36 9之间的发现 36处碱基变异 ,6 9个mtDNA单倍型。其可变碱基的变异形式主要为碱基替代 (转换和颠换 )、插入和缺失 ;碱基转换 (78 9% )明显高于颠换(14 3% )、插入 (3 4% ) ,缺失 (3 4% )。分析表明 ,人群个体mtDNA控制区碱基序列 ,基因多样性为 99 9% ,两个无关个体的偶合概率为 0 92 % ,具有高度序列的多态性