对420例血痕性别测定的研究

<正> 本文收集420例干血痕,男性364例,女性56例,经制片、国产盐酸阿的平染色,用奥林巴斯研究显微镜,对血痕Y荧光小体进行了观测,结果364例男性血痕的Y小体检出率平均为29.69％,其变动范围在9～63％;56例女性血痕的类Y小体平均检出率为0.75％,其变动范围0～4％;实验的同时,对150例男性血痕和25例女性血痕涂片,运用透     

根据Y小体的出现率确定脏器性别

作者用人的心、肝、脾、肺、肾、大脑、小脑制成涂片,用0.5％盐酸阿的平染色,pH5.5磷酸—枸橼酸缓冲液分化,在荧光显微镜下观察细胞核内的Y小体,计数其百分率。共观察了33具尸体的脏器,其中男性22人,女性11人。在男性脏器的细胞核中,Y小体的出现率为24％—80％,均值为48％;女性为0—8％,均值为0.76％;由此可见在两性间Y小体的分布不仅不相重迭,而且男性的下限与女性的上限相距甚远,故用本法进行脏器的性别鉴定是可行的。     

用双色荧光原位杂交技术鉴定血痕性别

目的 探讨荧光原位杂交技术在血痕性别鉴定中应用及其价值。方法对20例新鲜人血及20例1-2年人血痕的X、Y染色体采用双色荧光探针进行原位杂交分析。结果 人新鲜血,男性X、Y信号检出的完整率为98.8％,其中Y信号的检出率为100％,女性X、X信号检出的完整率为96.5％;1-2年人血痕,男性X、Y信号检出的完整率为88％,其中Y信号的检出率为90％,女性X、X信号检出的完整率为80％;40例血液(痕)性别检测的符合率为100％。结论双色荧光原位杂交技术可以鉴定血痕性别。     

中国人肱骨的性别鉴定

目的 建立中国人肱骨性别判定的方程。方法 测量了来自全国9省区的已知生前确切性别的103个个体的左右侧肱骨的12项测量指标,使用SPSS软件,对所获得的测量数据,进行男女性别间测量数据的t检验。剔除性别检验差异不显著的测量项目,使用Fisher判别分析方法,建立肱骨性别判定方程。结果 单一测量指标的性别判定方程20组,性别判别率为75.9％～89.3％;肱骨上端的性别判定方程2组,性别判别率为83.6％～85.7％;肱骨中段的性别判定方程2组,性别判别率为81.3％～83.9％;肱骨下端的性别判定方程2组,性别判别率为82％。完整肱骨的性别判别率,左侧87％,右侧90.9％,双侧肱骨的性别判别率为96.3％。结论 建立的肱骨性别判别方程,适用于中国人肱骨的性别判定。     

用Y—染色体特异DNA探针鉴识微量干血痕性别的研究

法医鉴识干血痕性别,通常是用盐酸阿地平染色观察 Y—小体的方法。重组 DNA 技术的发展与应用,为法医物证检验开辟了新的领域。本文用 Y—染色体特异 DNA 探针鉴识干血痕性别的成功,为法医的血痕性别签定,提供了一种新的检验方法。     

287例法医活体损伤程度分析

作者就本县1988～1992半287例活体损伤程度鉴定材料进行了统计分析,结果表明:重伤69例(24％);轻伤158例(55.1％),轻微伤60例(20.99％),男女之比为2.8∶1。损伤与性别,损伤与部位,损伤程度与后遗症出现率均有显著性差异;损伤程度在年龄组分布上无显著性差异。笔者就损伤程度鉴定中的原发性损伤、后遗症、损伤部位、致伤工具、夸大损伤程度、跨区域损伤等问题进行了讨论。     

ICP引发宫内窘迫的死因分析及其法医学意义

妊娠期肝内胆汁淤积症(intrahepatic cholestasisof pregnancy,ICP)是一种在妊娠晚期,出现以皮肤瘙痒及黄疸为特征的重要的妊娠并发症,因其早产率及围产儿死亡率高(5.4％～11％),从80年代开始,已引起国内普遍重视。近年来,因ICP并发围产儿死亡的医疗纠纷逐渐增多,现报告3例ICP的尸检案例,结合文献资料,探讨ICP在围产儿死因分析中的法医学意义。     

中国黄种人与白种人脑颅骨特征差异初探

目的建立利用脑颅骨特征推断黄种人和白种人种族的判别方程,并评价其法医学意义。方法收集141例成年人脑颅骨样本,其中黄种人60例,白种人81例。选取脑颅骨lO项特征指标,对125例样本进行测量,运用SPSS16．0软件对指标数据进行t检验和Fisher判别分析,建立判别方程。并使用16例样本对方程的判别正确率进行盲测。结果本文选择的10项脑颅骨特征指标变量均具有显著性种族差异（P〈0．05）;建立了5组单项指标和4组多项指标进行种族推断的判别方程,综合判别率为74．4％～94．4％;随机选取16例样本的盲测结果,正确率为81．3％-100％。结论脑颅骨具有种族差异性,本文建立的判别方程可在黄种人和白种人的种族推断中选用。     

中国人股骨的性别鉴定

目的建立中国人股骨性别判定的方程。方法测量来自全国14省区的已知生前确切性别180例（男150例,女30例）个体的双侧股骨21项指标。使用统计软件SPSS13．0对获得的股骨测量项目数据,进行同一性别双侧间及不同性别同侧间的t检验,然后采用Fisher判别分析法和Bayes逐步判别分析法,建立股骨性别判定的系列判别函数。结果股骨单一测量指标中男性判别率最高指标为股骨上髁宽,为94．0％,女性判别率最高指标为股骨头周与股骨颈垂直径,为93．3％,总判别方程的判别率为男性98．0％,女性93．3％。结论本研究提供的判别方程式判别准确率较高,适用于中国人股骨的性别判定。     

疑似Amelogenin等位基因丢失的检测与分析12例

目的观察并分析亲权鉴定案件中Amelogenin等位基因丢失的案例,探讨Amelogenin等位基因丢失的类型、机制以及对性别鉴定的影响和应对方法。方法选择经Si Fa STRTM 23plex DNA身份鉴定系统检测,女性出现Amelogenin X的峰面积与相邻杂合子峰面积一致或低于相邻纯合子峰面积的1/2,男性出现Amelogenin X丢失的样本,进行X-STR分型及Amelogenin X测序,同时对出现Amelogenin Y丢失的男性样本,检测Y-STR分型及Y染色体性别决定区(sex-determining region of Y,SRY)进行验证。统计Amelogenin等位基因丢失的类型及丢失率,分析出现变异的机制及影响。结果 1例男性Amelogenin X等位基因丢失,经测序证实为引物结合区突变;4例女性疑似Amelogenin X等位基因丢失,经测序证实出现引物结合区突变的仅为1例。7例男性出现Amelogenin Y丢失,其中SRY阳性5例,SRY阴性2例。5例SRY阳性案件中4例可检出部分Y-STR分型,1例未检出Y-STR分型,2例SRY阴性案件均未检出Y-STR分型。Amelogenin等位基因丢失率约为0.029%。结论 Amelogenin X丢失不影响性别判定,Amelogenin Y丢失可能对性别造成误判,需要检测Y-STR或SRY来明确性别,对于未检出Y-STR分型且SRY检测为阴性的"男性",建议进行染色体核型分析及性别分化相关基因检测以进一步明确性别。     

Sex determination by discriminant function analysis of the right tibia in the prehispanic population of the Canary Islands

This study has been performed in order to define standards usable to determine the sex of prehispanic individuals from the Canary Islands from their skeletal remains. Osteometric information at the right tibia was obtained from 59 complete skeletons from Gran Canaria, housed in the Museo Canario (Las Palmas), 45 males and 14 females (this constitutes the totality of complete prehispanic skeletons known from Gran Canaria). The parameters measured were: tibial length, proximal and distal epiphyseal breadth, transverse and anteroposterior diameter, perimeter at the nutrition foramen levels and minimum shaft perimeter. These parameters were subjected to different SPSS discriminant function analysis, combining all of them, or only the proximal or distal ones, without tibial length, etc., in order to obtain functions usable even if only bone fragments are available. Transverse diameter, proximal epiphyseal breadth and minimum shaft perimeter showed the highest discriminant power. The functions obtained showed high average accuracies, ranging from 94.9 to 98.3%, with female accuracies of 100%. The functions obtained were further applied to a test prehispanic population (ten males and ten females) from El Hierro. Overall accuracies of the functions when applied to this population ranged from 65 to 94.7%, with female accuracies ranging 80% to 100%.     

Y-chromosomal STR haplotypes in Pakistani populations

16 Y-specific STR loci have been analysed in 711 males from 12 populations in Pakistan. Individual loci showed between 4 and 10 alleles, and diversities ranged from 0.07 to 0.77. A total of 527 different haplotypes were found and the haplotype diversity ranged from 0.92 to 0.99 for the different populations. 446 haplotypes occurred in single individuals, and only 19 haplotypes were present in more than three males, but two striking examples of haplotype sharing were found, one involving 13 individuals, and the other 17. The 13 individuals were all Parsis, and 16 of the 17 were Brahuis, providing evidence for population substructuring.     

用Y-STR单倍型推断男性个体来源的分析

目的 利用17个Y-STR单倍型数据,推断分析浙江绍兴地区男性个体来源,为Y-STR数据库的建设与应用提供依据.方法 采集绍兴地区6县(市)区,104个镇(乡),1240个村的138个姓氏家族的7384份男性个体血样.采用YfilerTM复合扩增试剂盒进行17个Y-STR分型,所得数据进行县(市/区)/镇(乡/街道)/村/姓氏的组合和县(市/区)/镇(乡/街道)/村/姓氏/单倍型组合分布情况统计分析.结果 在7384份男性样本中,获得2 486种县(市/区)/镇(乡/街道)/村/姓氏组合,4957种县(市/区)/镇(乡/街道)/村/姓氏/单倍型组合,3149种Y-STR单倍型.其单倍型出现的次数从1至52次不等,其中仅出现1次的有2 471种(78.47％).对出现频率为17～ 52次的单倍型数据进行姓氏分析,发现平均有71.0％ (42.9％ ～87.5％)的人员来自同一姓氏,且在地域上多数为相邻镇或村的同姓人员.结论 利用Yfiler系统的17个Y-STR基因座单倍型数据,可以推断浙江绍兴地区男性个体的地域或姓氏来源.     

Fatal falls from heights in and around Diyarbakir, Turkey

Falls from high places, such as from a building, are frequently encountered in suicides, in some accidents, and sometimes in homicides. In this study, we evaluated the demographic data, mortality rates, fall causes, and post-mortem findings of individuals who fell from heights. Our cases were collected retrospectively from the files of the Branch of the Council of Forensic Medicine in Diyarbakir between 1996 and 2001. There were 431 accidental and 53 suicidal deaths due to blunt injury resulting from falls. Of the victims, 188 were female and 296 were male. The average age of the 484 victims was 27.05 years (range: 4 months-100 years). For buildings, the height ranged from 3 to 8 stories for suicides and from 1 to 8 stories for accidents. We proceeded to analyse the characteristics of accidental falls as follows. The majority of falls were from balconies or rooftops due to the tendency of people to sit and sleep on these places during the hotter months of the year. Some 54.5% of all falls occurred in May-August. The 53 suicidal jumps all occurred off buildings. The victims ranged in age from 15 to 70 years, and comprised 29 women and 24 men. One of the deceased jumped from the roof of a school in which he was boarding, and another from the seventh story of a hospital in which he was receiving treatment. The remaining 51 jumped from heights ranging from 3 to 8 stories. Psychiatric illness was reported in 18 (33.9%) of the suicide deaths, while 10 (18.8%) of the 53 suicides were single women. The results of this study were at variance with literature data with respect to the following: falls from heights were most common in the 0-5 year age group, females had a higher suicide rate than males, and the majority of accidental falls occurred at home rather than in the workplace.     

常染色体STR遗传标记在同胞鉴定中的应用

目的 探讨常染色体STR遗传标记用于鉴定两个体同胞关系的可行性。方法 用Power Plex~(TM)16体系15个STR基因座检测150对同胞个体和150对无关个体,ITO法计算同胞关系指数(PI_(FS))与同胞关系概率(W_(FS)),并比较两组W_(FS)值及两个体间等位基因匹配情况的差异,对前者进行组间差异的x~2检验。结果 100对(66.67％)同胞个体的W_(FS)大于0.9995;无关个体W_(FS)均小于0.8,其中100对(66.67％)W_(FS)小于0.27。同胞个体两个体间等位基因全相同的基因座个数为1～10个不等,平均5.49个,无关个体0～5个不等,平均1.33个;等位基因全不同的基因座个数,同胞个体0～6个不等,平均1.66个,无关个体2～11个不等,平均6.57个;等位基因半相同的基因座个数,同胞个体3～13个不等,平均7.85个,而无关个体1～13个不等,平均7.11个。经x~2检验,同胞个体和无关个体间全相同和全不同的基因座数差异均有极显著意义(P<0.001),半相同的基因座数差异无显著意义(P>0.05)。结论 PowerPlex~(TM)16体系可用于鉴定同胞关系。当两个体全不同基因座个数大于或等于6个,或全相同基因座数为0时,提示为无关个体;当两个体全不同基因座个数小于或等于1个,或全相同基因座数大于或等于6个时,提示为同胞。     

Sex determination from the talus and calcaneus measurements

Several studies have demonstrated that discriminant function equations used to determine the sex of a skeleton are population-specific. The purpose of the present research was to develop discriminant function equations for sex determination on the basis of 18 variables on the right and left talus and calcaneus in a modern northern Italian sample. The sample consisted of 118 skeletons (62 males and 56 females) from the Frassetto Collection (University of Bologna). The ages of the individuals ranged from 19 to 70 years. The results indicated that metric traits of the talus (in particular) and calcaneus are good indicators of sexual dimorphism. The percentage of correct classification was high (87.9-95.7%). In view of the differences among current Italian populations, we tested the validity of the discriminant function equations in an independent sample of individuals of different origin (northern and southern Italy). The accuracy of classification was high only for the northern Italians. Most southern Italian males were misclassified as females, confirming the population-specificity of discriminant function equations.     

应用Ion Torrent PGM~(TM)平台检测中国汉族124个身份鉴定SNPs

目的应用Ion Torrent PGM~(TM)测序平台检测中国汉族群体124个身份鉴定SNPs(individual identification SNPs,IISNP)的多态性信息。方法采用Ion Ampliseq~(TM)Library试剂盒对中国汉族130个无关个体样本及2个家系共8个个体的124个SNPs(90个常染色体SNPs和34个Y染色体SNPs)进行复合扩增,在Ion Torrent PGM~(TM)测序平台上检测。结果中国汉族130个无关个体应得14 148个SNP分型,其中软件给出分型结果14 086个,正确14 085个(99.992 9%),分型偏倚1例(0.007 1%)。软件未报SNP分型62例,需人工校正分析。在90个常染色体SNPs中,MP值最高为0.817 3(rs740910),最低为0.348 0(rs2831700),CMP为6.8984×10~(-34);DP值最高为0.652 0(rs1355366),最低为0.182 7(rs727811),CDP为0.999 999 999 999 999 999 999999 999 999 999 310 2,高于22个STRs的CDP;PE值最高为0.278 1(rs1058083),最低为0.007 3(rs1024116),CPE为0.999 999 616 7,低于22个STRs的CPE。在34个Y-SNPs中,72个中国汉族男性无关个体共观察到8种单倍型。家系样本分型结果未发现突变,均符合遗传规律。结论 124个身份鉴定SNPs在中国汉族群体中具有良好的遗传多态性,是理想的个体识别遗传标记。Ion Torrent PGM~(TM)平台在法庭科学领域有较好的应用价值。     

Results of a proposed breath alcohol proficiency test program

Although proficiency test programs have long been used in both clinical and forensic laboratories, they have not found uniform application in forensic breath alcohol programs. An initial effort to develop a proficiency test program appropriate to forensic breath alcohol analysis is described herein. A total of 11 jurisdictions participated in which 27 modern instruments were evaluated. Five wet bath simulator solutions with ethanol vapor concentrations ranging from 0.0254 to 0.2659 g/210 L were sent to participating programs, instructing them to perform n = 10 measurements on each solution using the same instrument. Four of the solutions contained ethanol only and one contained ethanol mixed with acetone. The systematic errors for all instruments ranged from -11.3% to +11.4% while the coefficient of variations ranged from zero to 6.1%. A components-of-variance analysis revealed at least 79% of the total variance as being due to the between-instrument component for all concentrations. Improving proficiency test program development should consider: (1) clear protocol instructions, (2) frequency of proficiency testing, (3) use lower concentrations for determining limits-of-detection and -quantitation, etc. Despite the lack of a biological component, proficiency test participation should enhance the credibility of forensic breath test programs.