Population genetics and the coagulation factor XIII A polymorphism

Platelets of 235 blood donors were typed for FXIII A polymorphism using agarose gel electrophoresis with subsequent immunofixation with anti-FXIIIA serum. The allele frequencies obtained (FXIIIA 1 = 0.7787, FXIIIA 2 = 0.2212) are in agreement with previously published data for Caucasoid populations. FXIIIA may be an additional valuable marker for paternity and linkage studies.     

凝血因子B的遗传多态性

目的首次调查北京地区人群体凝血因子B(FB)DNA水平的遗传多态性。方法应用PCR-STR技术。结果推算出FBDNA水平的基因分布频率,符合Hard-Weinberg平衡定律。结论对法医的办案工作,具有一定的实用性和推广意义。     

凝血因子ⅩⅢ B的遗传多态性

目的首次调查北京地区人群体凝血因子ⅩⅢ B(FⅩⅢ B)DNA水平的遗传多态性.方法应用PCR-STR技术.结果推算出FⅩⅢ B DNA水平的基因分布频率,符合Hard-Weinberg平衡定律.结论对法医的办案工作,具有一定的实用性和推广意义.     

Forensic application and polymorphism of the human lysosomal α-fucosidase (E.C.3.2.1.51)

Blood samples from 468 unrelated persons in Northrhine-Westphalia (F.R.G.) were tested in order to determine the frequency of the two common alleles at the FUCA-locus. In our series, the gene frequencies could be calculated as follows: FUCA¹:0.7447; FUCA²:0.2553. The plausibility to exclude non fathers from paternity is 15.4%.     

Forensic application of blood stains and polymorphism of the sixth component of human complement (C6)

Blood samples from 340 unrelated individuals in Fukui prefecture in the central part of Japan were tested in order to determine the gene frequencies of the C6 common alleles. The gene frequencies calculated were as follows: C6 A, 0.478, C6 B, 0.464, C6 B2, 0.052 and rare alleles, 0.006. It was demonstrated that C6 phenotyping from blood stains aged over a period of 1 year, could be performed correctly. The quantity of detectable whole blood after this period amounted to less than 2 microliter.     

Forensic psychophysiological expertise with application of polygraph

The notions of psychophysiological investigation (PPI) and psychophysiological examination with application of polygraph are characterized. The history of the method for more than 100 years, the aims of the examination are described. Effective use of the polygraph in criminal investigations is illustrated. The absence of methodological regulations and difficulties in training specialists hinder wide introduction of polygraphs into practice. How to get over these difficulties is shown.     

荧光标记短片段STR复合扩增系统的法医学应用研究

目的解决严重降解(低于300bp)DNA检验问题,提高降解DNA的检出率。方法重新设计引物,减小扩增产物片段长度,用荧光标记短片段STR复合扩增体系进行DNA检验,扩增结果与用Identifiler试剂盒扩增出的结果进行比较。结果用荧光标记短片段STR复合扩增系统对实际案件中的高度降解DNA检材进行检验,可以获得满意分型。结论该系统可用于严重降解DNA检材的检验工作。     

Genetic polymorphism of the B subunit of coagulation factor XIII in Libyans: occurrence of a fourth common allele, FXIIIB*6

FXIIIB phenotypes were determined in neuraminidase-pretreated serum samples by using isoelectric focusing in ultrathin-layer polyacrylamide gels containing 1 M urea and subsequent immunoblotting. In a Libyan population sample from Tripoli, (n = 108) nine different phenotypes as products of four common alleles were recognized, with frequencies as follows: FXIIIB*1 = 0.6574, FXIIIB*2 = 0.2454, FXIIIB*3 = 0.0741 and FXIIIB*6 = 0.0231. It is suggested that FXIIIB*6 is the fourth common allele of the FXIIIB system in this population.     

ABO血型的基因型与法医学应用

ABO血型系统是1901年由Landsteiner首先发现的第一个人类遗传标记.由于ABO血型抗原不仅存在于组织细胞,也存在于体液中,抗原相对稳定,保存较持久,分型已标准化,群体资料丰富,故在法医学上一直有着重要的地位.传统的ABO分型采用血清学方法,但其抗原属糖蛋白易失活,自然界中广泛存在类似的物质,都会影响检验效果.因DNA特殊结构,使得稳定性比蛋白更高,是携带遗传信息的物质,因此,从DNA水平对ABO基因进行分型更能准确地反映个体的差异,尤其是PCR技术对微量检材的检验,ABO血型系统的分子生物学分型法已越来越多地被应用到法医学上[1].     

ABO血型的基因型与法医学应用

ＡＢＯ血型系统是 1 90 1年由Ｌａｎｄｓｔｅｉｎｅｒ首先发现的第一个人类遗传标记。由于ＡＢＯ血型抗原不仅存在于组织细胞 ,也存在于体液中 ,抗原相对稳定 ,保存较持久 ,分型已标准化 ,群体资料丰富 ,故在法医学上一直有着重要的地位。传统的ＡＢＯ分型采用血清学方法 ,但其抗原属糖蛋白易失活 ,自然界中广泛存在类似的物质 ,都会影响检验效果。因ＤＮＡ特殊结构 ,使得稳定性比蛋白更高 ,是携带遗传信息的物质 ,因此 ,从ＤＮＡ水平对ＡＢＯ基因进行分型更能准确地反映个体的差异 ,尤其是ＰＣＲ技术对微量检材的检验 ,ＡＢＯ血型系统的分…     

9个Y-STR基因座荧光复合扩增系统的法医学应用

目的建立9个Y-STR基因座的复合扩增系统,提高Y-STR的法医学检测效能。方法6-FAM标记DYS434、Y-GATA-A10、DYS438、DYS439,HEX标记DYS531、DYS557、DYS448,TAMRA标记DYS456、DYS444引物,PCR复合扩增,毛细管电泳得到结果,考察扩增系统的个体识别能力、灵敏度、特异性、组织同一性。结果所建立的9个Y-STR复合扩增系统分型清晰,单倍型多样性达0.9968,特异性好,灵敏度高(0.5ngDNA),并且在男女混合斑检验上较常染色体STR分型更有优势。结论9个Y-STR复合扩增系统具有较高的识别能力,对建立Y染色体STR数据库,研究群体遗传学和进行法医学混合斑物证鉴定有重要意义。     

Forensic application of Y chromosome SNPs in inconclusive cases

Biallelic markers, Single Nucleotide Polymorphisms (SNPs), are nowadays a powerful tool in the analysis of degraded samples. Namely, Y chromosome SNPs allow to determine the gender of the analyzed sample and to establish its haplogroup, making possible to attribute the ethnicity of male individuals. The aim of this study is to obtain Y-SNPs in forensic samples without STRs results, checking methodologies previously used.     

生物素掺入反向杂交法在法医学中应用的研究

建立了一套快速、准确检测人类 HLA－ DQA基因的反向杂交检测技术,可准确判定 HLA－ DQA基因位点的 6个等位基因即 0101、 0102、 0103、 0201、 0301、 0401。调查了中国北方汉族人群中 200例无关个体的 HLA－ DQA基因频率及基因型的频率分布,杂合度 (H)为 0.75,个体识别能力 (DP)为 0.928。采用生物素直接掺入 PCR扩增的方法, 1ng的 DNA样品即可准确判型。对血液、血斑、精斑、精液与阴道液的混合斑、肌肉组织等检材进行检测,效果良好。在刑事案件及亲子关系鉴定中应用,准确地判定了检材的 HLA－ DQA基因型,为侦察破案提供了科学依据。将此项技术商品化,完成了试剂盒的研制。     

Forensic application of reverse dot blot with biotin incorporation

A rapid and accurate reverse dot blot technique was successfully established. It could distinguish the 6 alleles of 0101, 0102, 0103, 0201, 0301 and 0401 of HLA-DQA locus. Alleles and genotype frequencies for HLA-DQA locus were determined in 200 unrelated individuals of northern Han population. The discrimination power (DP) was 0.928, heterozygocity (H) 0.75. By direct biotin incorperation, 1 ng genome DNA could be detected successfully. This method can be used for paternity test and individual identification in forensic science practice.     

Forensic examination and application of areca nuts as material evidence

In this study, we aimed to explore the possibility of DNA analysis of areca nut as material evidence and the value of short tandem repeat (STR) typing of areca nut as material evidence under the condition of simulating external environment. In this study, water soaking, soil burial, sun exposure, and wet environment were used to treat areca nut residues. Chelex 100 was used to extract DNA, the PowerPlex21 kit to amplify, and the ABI PRISM^® 310 Genetic Analyzer to analyze the DNA of areca nut residues. DNA and STR typing were performed to analyze the residue after chewing. The results showed that the number of residual sites decreased with time under the conditions of water soaking, soil burial, sun exposure, and wet environment. Thus, areca nut can be used as forensic material evidence for DNA analysis and individual identification.     

c-jun及其表达产物的法医学应用前景

c-jun基因是即刻早期基因jun家族成员之一,正常情况下该基因在大多数细胞中表达水平很低且不易被检测到,但在外界某些因素作用下,可被快速激活使之明显表达,其表达产物在多种基因表达、细胞增殖、细胞分化、凋亡等过程中起重要作用.本文综述了即刻早期基因c-jun及其产物c-jun蛋白的结构特点、生物学功能,着重从脊髓损伤、颅脑枪弹创、电击伤等方面阐述了其法医学应用.     

c-jun及其表达产物的法医学应用前景

c-jun基因是即刻早期基因jun家族成员之一,正常情况下该基因在大多数细胞中表达水平很低且不易被检测到,但在外界某些因素作用下,可被快速激活使之明显表达,其表达产物在多种基因表达、细胞增殖、细胞分化、凋亡等过程中起重要作用。本文综述了即刻早期基因c-jun及其产物c-jun蛋白的结构特点、生物学功能,着重从脊髓损伤、颅脑枪弹创、电击伤等方面阐述了其法医学应用。