中国南方汉族人群6个Y-STR基因座 遗传多态性及法医学应用

为研究中国南方汉族人群DYS393等6个Y-STR基因座的遗传多态性并用于法医学鉴定,通过采用PCR复合扩增和基因测序仪荧光检测方法,检查204个无关男性个体,调查南方汉族的6个Y-STR基因座的单倍型频率,并对93对真父子和38对非父子的亲子鉴定样本进行检测。结果DYS393基因座检出5个等位基因,DYS19基因座检出6个等位基因,DYS389Ⅱ基因座检出8个等位基因,DYS390基因座检出6个等位基因,DYS391基因座检出4个等位基因,DYS385 基因座检出44个等位基因,共检出176种单倍型。93对真父子中,观察到2例分别有1个基因座突变。检测38对非父子,有1个或2个Y-STR基因座排除的案例各有1例（2.6%）;有3 个和3个以上的Y-STR基因座可以排除父子关系的案例为35例（92.1%）;6个Y-STR基因座不能排除父子关系的为1例。结果表明6个Y-STR基因座具有丰富的遗传多态性,可用于法医学个体识别和亲子鉴定。Abstract: To study the genetic polymorphisms of six Y-chromosome specific STR loci in the southern Chinese Han population and apply it in forensic science, six Y-STR loci were amplified by multiple PCR and the PCR products were detected by using ABI PrismTM 377 Sequencer. The haplotype frequencies at 6 Y-STR loci were determined in a total of 204 unrelated males from southern Han population of China. Ninety-three father/son pairs with demonstrated paternity and thirty-eight non-paternity father/son pairs were detected by using our Y-STR system. As a result, the number of alleles for DYS393、DYS19、DYS389Ⅱ、DYS390、DYS391and DYS385 were 5, 6, 8, 6, 4 and 44 , respectively. A total of 176 haplotypes at 6 Y-STR loci were found. Two father/son pairs with single Y-STR mutation were observed in the 93 father/son pairs with demonstrated paternity. Among the 38 non-paternity father/son pairs, one case with one Y-STR exclusion of paternity, one case with two Y-STR exclusions and 35 cases with 3 or more Y-STR exclusions were observed. Non-exclusion of paternity at 6 Y-STR loci was found only in one case. This result indicated that the six Y-STR loci were highly polymorphic and are suitable for personal identification and paternity testing.     

人类血小板抗原1～6系统同步基因分型的研究

为研究采用PCR—SSP技术,建立可靠的人类血小板抗原HPA-1,2,3,4,5,6系统的同步基因分型方法,并以所建立的方法研究血小板抗原。设计合成18条序列特异性引物,探索最佳退火温度,通过调整引物浓度、Mg2＋离子浓度,使HPA-1~6系统等位基因在同一条件下进行同步扩增和扩增产物在同一凝胶中进行同步电泳。引物的特异性和灵敏度采用基因型已知的质控DNA进行验证。应用此方法,对2000年度国际输血协会（ISBT）第十届血小板基因定型与血清学工作组送检的15份考核样本（其中血样2份,DNA样本13份）进行了基因分型。用此方法检测质控DNA,结果与已知的HPA基因型完全相符;15份第十届血小板基因定型与血清学工作组的考核样本的检测结果,与ISBT公布的结果完全相同,准确率达100%。Abstract: To set up the simultaneous genotyping of human platelet antigens of 1,2,3,4,5,6 system by PCR—SSP assay and use the genotyping method for the study of platelet antigens. In this study, 18 sequence-specific primers were designed and synthesized. The annealing temperature for all sequence-specific primer pair, the concentration of each primer pair and the concentration of Mg2+ were adjusted to the optimum so that HPA-1 to 6 systems could be amplified simultaneously under the same PCR cycling parameters. The electrophoresis of PCR products was conducted simultaneously on the same agarose gel. Control DNA samples that genotypes known were used to confirm the sensitivity and specificity of each sequence-specific primer. 15 coded samples (including 2 blood samples and 13 DNA samples) distributed by 10TH Platelet Genotyping and Serology Workshop of the International Society of Blood Transfusion (ISBT) were typed for HPA-1 to 6 systems by this method. A concordance rate of 100 percent was observed between the results of control DNA samples typed by our PCR—SSP assay and the data of known specificity of control DNA. The results of 15 coded samples tested by our method agreed well with the results provided by ISBT report.     

青海藏族、土族、撒拉族ABO,Rh,MN,P血型系统分布的研究

对青海藏族、土族、撒拉族人群进行了ABO, Rh, MN, P血型系统分布的调查。结果表明ABO:藏、土族r>q>p、撒拉族r>p>q; Rh：藏族、土族各发现Rh阴性1例（分别占0.74%与0.66%）,撒拉族未发现Rh阴性者,三个民族表现型均以CCDee、 CcDE较多见;MN：均m＞n,但m低于南方一些民族;P;藏族、撒拉族p¹基因频率分别是0.2574与0.2703,土族0.1971。     

IgA同种异型A_2m(2)抗体——抗A_2m(2)的发现和中国汉族人群Am基因标记的研究

女献血员刘×的血清,经血凝试验和双扩散试验,证实为免疫球蛋白A缺乏。应用各种特异性的IgA致敏细胞与刘×血清作血凝抑制试验,仅IgA_2、A_2m(1)和A_2m(2)与之凝集,用谱血清作抑制试验,可清楚地显示出刘×血清内除有抗α_2外,尚有抗IgA_2的同种异型A_2m(2)的抗体——抗A_2m(2)。这罕见的抗体能被特异性地用于人群Am基因标记的研究,从中国人群和家系研究中,提示A_2m(1)和A_2m(2)是由常染色体显性遗传,受控于一对共显性的等位基因,中国汉族人群的A_2m(1)基因频率为0.5533,A_2n1(2)为0.4467(χ~2=0.145,0.80>P>0.70)。本文还讨论了Am在人群基因和IgA分子生物学上的意义。     

中国人Diego血型系分布

人类大多数红细胞血型系的重要性在于它 们的临床意义，但Diego血型系却被认为在人 类学上有特殊价值[sIO Dieg。血型由Di“和Dib 抗原组成，成为独立的血型系。抗Di“是1955 年Lagriss。等从一姓Diego的委内瑞拉妇女中 发现的［410抗Dib是1967年Thompson等发 现的〔s]。免疫遗传学的研究表明，抗Di“和抗Dib 检出的抗原分别受同一位点上的共显性基因 Di，和Di“决定，不存在Di (a-b-)。由于发 现Di‘抗原的分布有明显的种族差异，因此它 作为人种的一个遗传标记，被用于群体遗传学 研究。     

中国人Diego血型系分布

人类大多数红细胞血型系的重要性在于它们的临床意义,但Diego血型系却被认为在人类学上有特殊价值。Diego血型由Di~a和Di~b抗原组成,成为独立的血型系。抗Di~a是1955年Lagrisse等从一姓Diego的委内瑞拉妇女中发现的。抗Di~b是1967年Thompson等发现的。免疫遗传学的研究表明,抗Di~a和抗Di~b检出的抗原分别受同一位点上的共显性基因