用PCR-SSP法分析中国辽宁汉族HLA-DRB1基因多态性

应用ＰＣＲ－ＳＳＰ方法对辽宁地区１５９名无关个体进行ＨＬＡ－ＤＲＢ１位点基因分型，检出８组等位基因（扩增片段大小为１００ｂｐ），基因频率范围在０．０２２０１￣０．２３８９９，３６种可能基因型中检出３３种。经ｘ＾２检验符合Ｈａｒｄｙ－Ｗｅｉｎｂｅｒｇ平衡定律。本地区汉族群体的期望杂合度为８５％，观察杂合度为８３％，个人鉴别机率（ＤＰ）为０．９４，非父排除率（ＥＰＰ）为６６％，本法具有简单，快速，结果     

中国汉族群体Y染色体DY390位点多态性分析

报告了对汉族Ｙ染色体ＤＹ３９０位点等位基因频率的调查结果。在９７名无关的汉族个体中发现有６个等位基因，等位基因的大小为２０３－２２３ｂｐ，最常见的等位基因大小是２１１ｂｐ和２１５ｂｐ。ＧＤ值０．６７７     

D1S549、D3S1754和D22S683基因座在中国成都 地区汉族群体中的遗传多态性研究

目的　为了解中国成都地区汉族群体Ｄ１Ｓ５４９ 、Ｄ３Ｓ１７５４ 和Ｄ２２Ｓ６８３ 基因座基因频率分布,获得中国成都地区汉族群体三个ＳＴＲ 基因座的群体遗传数据, 探究在法医学应用中的意义。方法　应用ＰＣＲ 扩增技术, 聚丙烯酰胺凝胶垂直板电泳对Ｄ１Ｓ５４９ 、Ｄ３Ｓ１７５４ 和Ｄ２２Ｓ６８３ 基因座分型。结果　１０９ 个个体中Ｄ１Ｓ５４９ 共检出９ 个等位基因, ２３ 种基因型; Ｄ３Ｓ１７５４ 共检出９ 个等位基因, １５ 种基因型; Ｄ２２Ｓ６８３共检出１０ 个等位基因, ３０ 种基因型。三个ＳＴＲ 基因座基因型频率分布总的看来符合ＨａｒｄｙＷｅｉｎｂｅｒｇ 平衡。三个ＳＴＲ基因座在中国成都地区汉族群体中的观察杂合度分别为０．７ ～０．７６ , 非父排除概率分别为０．４７１１～０．６４０４ , 个人识别机率分别为０．８６９３ ～０．９４２２ 。结论　结果显示Ｄ１Ｓ５４９ 、Ｄ３Ｓ１７５４ 和Ｄ２２Ｓ６８３基因座在群体遗传学研究和法医学个人识别中有较高的应用价值     

用多重PCR及荧光检测技术分析CTT位点的多态性

运用ＰＣＲ和荧光检测技术对华东地区９８份无血缘关系的个体血样进行了３个ＳＴＲ位点的复合分型检验。ＣＳＦ１ＰＯ位点检测到９个等位基因、２２种基因型;ＴＰＯＸ位点检测到８个等位基因、２２种基因型;ＴＨ０１位点检测到７个等位基因、１４种基因型。经计算,得到华东地区ＣＳＦ１ＰＯ、ＴＰＯＸ和ＴＨ０１位点等位基因频率２值和杂合度Ｈ、鉴别能力（ＤＰ）、排除概率（ＰＥ）、多态信息量（ＰＩＣ）及３个位点的累积识别能     

武汉汉族人群短串联重复序列D5S818， D7S820位点多态性研究

目的研究Ｄ５Ｓ８１８,Ｄ７Ｓ８２０的多态性及法医学应用价值。方法应用聚合酶链反应（ＰＣＲ）、聚丙烯酰胺凝胶电泳分离及银染显带技术对武汉地区汉族２３２例无关个体作Ｄ５Ｓ８１８,Ｄ７Ｓ８２０位点分型调查。结果Ｄ５Ｓ８１８和Ｄ７Ｓ８２０位点分别检出８个和６个等位基因,获汉族人群基因频率分布。二位点基因型频率分布符合ＨａｒｄｙＷｅｉｎｂｅｒｇ平衡。位点杂合度分别为０８１２１和０７９３４,个人识别能力分别为０９４１６和０９２５５,非父排除率分别为０５８４２和０５８１６。结论Ｄ５Ｓ８１８和Ｄ７Ｓ８２０ＳＴＲ位点均是高杂合度、高鉴别能力的遗传标记系统,在法医学个人识别和亲子鉴定中有较高实用价值     

SPE/HPLC法分析血液及肝组织中4种杀鼠剂

建立了固相萃取（ＳＰＥ）／反相高效液相色谱（ＨＰＬＣ）分析全血及肝组织中的杀鼠灵、杀鼠迷、溴敌隆、大隆的方法。在１ｍｌ血液中加入１０．０μｇ药物,回收率为６２．６％～９０．９％,ＲＳＤ为５．１０％～７．８２％。１克肝组织中加入１０．０μｇ药物,回收率为３７．５％～６７．７％,ＲＳＤ为５．４０％～１２．７６％。该方法简单快速,血中稳定性好。研究的方法经动物实验验证,效果很好     

GC/NPD、GC/FID分析生物样品中的氟乙酰胺

报道了用ＧＣ／ＮＰＤ、ＧＣ／ＦＩＤ分析生物试样中的氟乙酰胺的方法。在１ｇ肝组织中加入５．０μｇ氟乙酰胺,回收率为８５．１％,ＲＳＤ为５．３９（ｎ＝７）;１ｍｌ血中加５μｇ,回收率为８５．１％,ＲＳＤ为７．１１％;在１ｇ胃组织中加入１０μｇ,回收率为８１．６％,ＲＳＤ为１０．１％（ｎ＝７）。研究的方法经动物实验和中毒案件的应用,效果较好     

GC/NPD,GC/FID分析生物品中的氟乙酰胺

报道了用ＧＣ／ＮＰＤ、ＧＣ／ＦＩＤ分析生物试样中的氟乙酰胺的方法,在１ｇ肝组织中加入５．０μｇ氟乙酰胺,回收率为８５．１％,ＲＳＤ为５．３９（ｎ＝７）;１ｍｌ血中加５μｇ,回收率为８５．１５％,ＲＳＤ为７．１１％;在１ｇ胃组织中加入１０μｇ,回收率为８１．６％,ＲＳＤ为１０．１％（ｎ＝７）。研究的方法经实验和中毒案件的应用,效果较好。     

兔急性心肌缺血脱氢酶电镜—细胞化学变化的动态观察

为了研究急性心肌缺血脱氢酶变化的规律性，本文应用电镜酶细胞化学技术，通过结扎５０只家兔冠状动脉左前降支，观察心肌缺血后０．２５、０．５、１、１．５、２、４、６、１２、２４、３６、７２小时ＳＤＨ和ＬＤＨ的变化。结果显示：心肌缺血０．５小时后，ＳＤＨ和ＬＤＨ活性开始下降。同时伴有致密体的形成和超微结构的改变。随着缺血时间的延长，酶活性下降更加明显，最后消失。     

乌头碱在兔尸中的降解动力学研究

本文研究了灌服短柄乌头（ＡｃｏｎｉｔｕｍｂｒａｃｈｙｐｏｄｕｍＤｉｅｌｓ，简称ＡｂＤ）后，乌头碱（Ａ－ｃｏｎｉｔｉｎｅ，简称ＡＣ）在４℃保存兔厂中的降解动力学规律。结果显示，乌头碱在克厂中的降解符合表观二级动力学过程，乌头碱在肝、肾中的降解动力学方程分别为：Ｃ－１（肝）＝０．０３３９（ｔ—５）＋０．１９１８，ｃ－１（肾）＝０．０７８８（ｔ—５）＋０．５１７６，其半衰期分别为５．６６和６．５７天。     

Polymorphism and haplotype study of Y-chromosomal multi-STRs loci in Han population in Guangzhou

Using polymerase chain reaction and silver stain, polymorphism and haplotype study of Y-chromosomal multi-STRs loci: DYS19, DYS389I/II, DYS390 were studied. 111 samples of male were collected from Guangzhou area. 5 alleles were determined in DYS19 locus, 4 alleles in DYS389I locus, 5 alleles in DYS389II locus and 5 alleles in DYS390 locus. Compared with other racial populations, differences of distribution of allele frequencies existed significantly. 72 haplotype were present in this study.     

Population studies of the Y-chromosome specific polymorphisms DYS19, DYS389 I + II, DYS390 and DYS393 in a western German population (Bonn area).

Population studies were carried out on the Y-specific short tandem repeat (STR) systems DYS19, DYS389I + II, DYS390 and DYS393 in a Western German population sample. Determination of the allele frequencies revealed for all these systems, unimodal distribution. The number of observed alleles varied: five for DYS19, six for DYS390, three for DYS389I, seven for DYS389II and six for DYS393. In 102 unrelated male individuals, 56 different haplotypes were found. The haplotype diversity values were similar to those of other European populations.     

Y-chromosomal STR haplotypes in Kalmyk population samples

Seventeen Y-chromosomal short tandem repeats (STRs), DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438, DYS439, GATA-H4, DYS448, DYS456, DYS458, DYS635 were typed in DNA samples from the Kalmyk population (n=99). The population is characterized by a high proportion of duplicated DYS19 alleles and deletions of the locus DYS448 on the background of the Central Asian haplogroup C*. AMOVA analysis reveals a close vicinity to Mongolian and Kazakh populations and large genetic distance to geographical neighbours from Russia, Ukraine and the Caucasus.     

Haplotype diversity of 16 Y-chromosomal STRs in three main ethnic populations (Malays, Chinese and Indians) in Malaysia

We have analyzed 16 Y-STR loci (DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635 or Y-GATA C4, DYS392, Y-GATA H4, DYS437, DYS438 and DYS448) from the non-recombining region of the human Y-chromosome in 980 male individuals from three main ethnic populations in Malaysia (Malay, Chinese, Indian) using the AmpFlSTR((R)) Y-filertrade mark (Applied Biosystems, Foster City, CA). The observed 17-loci haplotypes and the individual allele frequencies for each locus were estimated, whilst the locus diversity, haplotype diversity and discrimination capacity were calculated in the three ethnic populations. Analysis of molecular variance indicated that 88.7% of the haplotypic variation is found within population and 11.3% is between populations (fixation index F(ST)=0.113, p=0.000). This study has revealed Y-chromosomes with null alleles at several Y-loci, namely DYS458, DYS392, DYS389I, DYS389II, DYS439, DYS448 and Y-GATA H4; and several occurrences of duplications at the highly polymorphic DYS385 loci. Some of these deleted loci were in regions of the Y(q) arm that have been implicated in the occurrence of male infertility.     

Y chromosome STRs in Croatians

Eight Y chromosome short tandem repeat (STR) polymorphisms (DYS19, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393) were analyzed in the sample of 457 unrelated Croatian men. A general STR allelic frequency pattern in Croatians corresponds to other European populations with the exception of the loci DYS19 and DYS389II. The most frequent DYS19 allele was 16, while at the DYS389II the most frequent were alleles 30 and 31. The most frequent Y chromosome haplotype (16-13-13-31-24-11-11-13) was found in 33 individuals (7.22%). One hundred and seventy-four haplotypes (38.07%) were observed in single copies.     

Y-STR polymorphism in Central Anatolian Region of Turkey

Eight Y-chromosome specific STR (Y-STR) loci including DYS19, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393 were investigated in a group of males from Central Anatolian Region of Turkey. Healthy 59 males living in this region for at least three generations were included in the study. PCR analysis was carried out with Y-STR specific primers on genomic DNA obtained from peripheral blood samples and size determination of PCR products was performed by silver staining following 6% polyacrylamide gel electrophoresis (PAGE). DYS388 was found to be the locus with lowest diversity (D) whereas DYS389II was the locus with highest diversity. The current study presented a framework of variation for the eight Y-STR loci in Central Anatolian population.     

Allele frequencies and haplotypes of 12 Y-STR loci for the local Chinese population in Hong Kong

Haplotype frequencies were established for 12 Y-chromosome STR loci, including all loci recommended by Scientific Working Group on DNA Analysis Methods Y-STR Subcommittee (DYS391, DYS389I/II, DYS439, DYS393, DYS390, DYS385a/b, DYS438, DYS19 and DYS392) plus DYS437, in the local Chinese population in Hong Kong. In a sample of 481 unrelated males, it was possible to define 424 different haplotypes of which 388 were unique, 26 was found in two individuals, 2 were shared in three individuals, 5 were shared in four individuals and 3 were shared in five individuals. The allele diversity values for each locus ranged from 0.4273 (DYS438) to 0.9555 (DYS385a/b). The observed haplotype diversity value and discrimination capacity were 0.9992 and 0.8815, respectively. In a genetic study of these unrelated males, triple alleles were found at the DYS358 locus in six individuals. The combined Y-chromosome STR polymorphisms provide a powerful discrimination tool for routine forensic applications.     

Tunisian population data on 10 Y-chromosomal loci

Alleles and haplotypes frequencies for 10 Y-chromosome STR loci (DYS19, DYS385 I/II, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS438 and DYS439), included in the Y-Plex6 and Y-Plex5 kits were determined for a Tunisian population sample of 100 male individuals.     

藏族群体7个Y-STR基因座及单倍型的遗传多态性

目的调查藏族Y染色体7个STR基因座及单倍型的遗传多态性。方法应用PCR、变性聚丙烯酰胺凝胶电泳结合银染显色分型技术,检测67例藏族男性DNA样品。结果在DYS393、DYS389Ⅰ、DYS19、DYS390、DYS389Ⅱ、DYS392等6个基因座中共检出25个等位基因,DYS385基因座检出22个等位基因组,频率分布在0.0149～0.5075之间,各基因座DP值分布在0.5075～0.8991之间,以DYS385基因座最高。由7个基因座组成的YH6系统单倍型有51种,DP值为0.9887,DYS393与DYS389Ⅱ基因座等位基因少,推测藏族群体在进化过程中可能发生过瓶颈事件。结论上述7个STR基因座属于高鉴别能力基因座,单倍型具有很高的遗传多态性。     

Y chromosome STR haplotypes in three UK populations

Eleven Y chromosome short tandem repeat markers: DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439, have been typed in the three main UK population groups: Caucasians, Afro-Caribbeans and South Asians. Existing PCR reactions were adapted to incorporate DYS437, DYS438 and DYS439. The observed 11 loci haplotypes and the individual allele frequencies for each locus are presented. Distinct differences for most markers were observed between the population groups studied.