改良磺基水杨酸法显示GC谱带及两个新的GC变异型的发现

本文采用改良了Kühnl报告的磺基水杨酸沉淀法显示GC谱带的技术,显示了六种常见的GC亚型和GC变异型。并且采用该法发现了两个新的GC变异型基因Gc~(1c3)和Gc~(2c7),其基因频率分別为0.0008和0.0004。本法经济、快速,谱带清晰,可取代需抗GC血清的常规免疫固定技术。     

中国汉族群体人类补体C8A多态性

采用免疫沉淀、SDS-聚丙烯酰胺凝胶电泳 (SDS- PAGE)、被动转印及酶免分析 ,研究了人类补体 C8A等位基因频率在成都地区汉族群体中的分布。 12 1份样本被分为 3种常见型 ,即 C8A- A、C8A- B及 C8A- AB,由两个等位共显性基因 C8A * A及 C8A* B控制 ;同时发现了 2个稀有亚型 ,即 A3亚型及新发现的 Ax亚型。等位基因频率为 C8A* A=0 .5 0 83,C8A* B=0 .4835 ,C8A*稀有型 =0 ,0 0 83。说明 C8A多态性在中国群体中具有良好的分布 ,个人识别率(DP)达到 6 1.14% ,可用于法医学个人识别及亲子鉴定     

成都地区汉族Gc亚型的分布及血痕中Gc亚型的检测

作者用免疫固定薄层聚丙烯酰胺凝胶等电聚焦(PAGIF)技术,调查了成都地区无关的125名健康汉族人血清Gc亚型分布。其6种亚型频率(%)分别为:Ge1F=20.8,Ge1S=8.0,Gc1F-1S=18.4,Gc2-1F=30.4,Gc2-1S=16.0和Gc2=6.4。Gc的基因频率为:Cc~(1F)=0.452,Gc~(1S)=0.252和Gc~2=0.296。对保存于室温条件下20周的陈旧血痕进行了Gc亚型定型,获得满意结果。     

北京地区汉族群体凝血因子ⅧB的遗传多态性

应用聚丙烯酰胺等电聚焦(IEF)免疫印迹技术,调查了北京地区汉族群体凝血因子ⅫⅠB(FⅫⅠB)的遗传多态性.推算出FⅫⅠB的基因频率为FⅫⅠB*1=0.3552,FⅫⅠB*2=0.0174,F皿B*3=0.6236,该遗传标记的表现型频率分布符合Hard-Weinberg平衡定律.     

中国人群补体C_1R的遗传多态性

采用聚丙烯酰胺等电聚焦电泳，结合免疫印迹技术，对中国辽宁地区360名无关个体的补体C1R遗传多态性进行了研究。共检出6种常见表现型和4种变异型。基因频率C1R*1=0．5181，C1R*2=0．3291，C1R*3=0．1472，CIR*R=0．0056，分布符合Hardy-Weinberg法则。C1R的血型鉴别机率（DP值）为0．7694，是一种具有高度鉴别能力的血清多态性遗传标记。     

成都地区汉族群体抗凝血因子Ⅲ的遗传多态性

用等电聚焦免疫固定技术，调查成都地区225名无血缘关系汉族男女青年血浆抗凝血因子Ⅲ（ATⅢ）表现型的分布，发现B、AB两种普遍型和一种BV变异型；推算出ATⅢ的基因频率，即ATⅢ*A=0．1022，ATⅢ*B=0．8956，ATⅢ*V=0．0022。该遗传标记在中国人群中的频率分布系国内首次报道。     

超薄层等电聚焦电泳检测红细胞PGM_1亚型

我们采用超薄层聚丙烯酰胺凝胶等电聚焦(UTL PAGIEF)电泳技术检测了红细胞PGM_1亚型,并对郑州地区356例汉族无关健康个体进行了PGM_1亚型分析。现将结果报告如下: 表1为郑州地区356例无关健康个体的PGM_1亚型分布。按Hardy-Weinberg平衡定律进行吻合度检验,x~2=4.3154;df=6;0.50相似文献   

α_2HS-糖蛋白、α_1-抗胰蛋白酶和GC的同步分型与应用

作者应用等电聚焦技术,建立了同步检测α_2HS-糖蛋白表型,α_1-抗胰蛋白酶亚型和GC亚型的方法。本法累计个人识别机率为0.9701,累计非父排除率为0.5811、是国内外同步电泳分型史鉴别效率最高的方法。在11例亲子鉴定中应用本法取得了满意结果。     

1例α2-HS-糖蛋白变异型的报导

α2-HS-糖蛋白(α2-HS-glycoprotein,简称AHSG),是存在于正常人血清中的一种电泳迁移率为α2,具有高度遗传多态性的糖蛋白.1979年Anderson等应用双向电泳的方法首先发现了AHSG的遗传多态性,1983年Cox等将等电聚焦技术成功地应用于AHSG分型[1,2].到目前为止,在已调查过的群体中,AHSG均具有遗传多态性,三种常表现型(AHSG 1型、AHSG 2型和AHSG 2-1型)分别由一对共显性等位基因AHSG*1和AHSG*2所编码.此外,在对AHSG型进行深入研究的过程中,有20余种AHSG变异型相继被发现[3],但国内尚无有关AHSG变异型的报道.本文报道了在辽宁汉族人群AHSG型频率分布调查中发现的一种AHSG变异型及其家系调查的结果.     

GC/MS和GC法定性定量分析可卡因

目的建立用于可卡因案件检验鉴定的GC和GC/MS定性、定量分析方法。方法通过选择和优化,建立GC、GC/MS法检验可卡因的最佳分析条件;用分别含0.6mg/ml地西泮为内标的0.10、0.20、0.40、0.60、0.80、1.00、1.20mg/ml可卡因标准品乙醇液,考察线性范围和方法检测限。结果分析方法线性方程:GC/FID,Y=1.055X-0.0021,R2=0.9999,GC/NPD,Y=0.556X-0.0016,R2=0.9996;可卡因检测限:GC/FID法10ng,GC/NPD法2ng;分别以所建GC/FID、GC/NPD分析方法和内标法对案件中缴获的可卡因毒品进行定量分析,结果为72%±2.3%,且两方法定量重现性良好。结论本文所建方法可以用于可卡因涉毒案件的检验鉴定。     

C6 phenotyping in sera and bloodstains by isoelectric focusing followed by electroimmunoblotting

The genetic polymorphism of C6 was investigated in 329 unrelated Japanese individuals using isoelectric focusing in polyacrylamide gels followed by an electroimmunoblotting technique. Besides six common phenotypes C6 A, AB, B, AB2, BB2 and B2, six rare variants were observed. The allele frequencies were: C6*A = 0.4422, C6*B = 0.4757, C6*B2 = 0.0714, C6*A3 = 0.0015, C6*M1 = 0.0046 and C6*B3 = 0.0046. The population data confirmed that the C6*B2 allele is the third common allele characterizing Japanese. The present electroimmunoblotting technique was applied to demonstrate C6 types in dried bloodstains. The C6 types were determined from bloodstains stored at 4 degrees C for up to 10 weeks, at room temperature for up to 2 weeks and at 37 degrees C for up to 4 days. The results show that this component system offers a new powerful means for the medico-legal grouping of bloodstains.     

Factor B subtyping in sera and bloodstains by isoelectric focusing and immunoblotting

The polymorphism of BF was investigated in 765 unrelated Japanese individuals by isoelectric focusing and immunoblotting. Besides five common subtypes three rare variants were observed. The allele frequencies were: BF*S = 0.8078, BF*FA = 0.1797, BF*FB = 0.0105, BF*Var. = 0.0020. The above method was successfully applied to subtyping BF in stored bloodstains. The determination limits were: at 4 degrees C 8 weeks, at room temperature 2 weeks and at 37 degrees C only 2 days after storage. The BF subtyping is of practical use in medicolegal individualization of unknown bloodstains.     

GC polymorphism detected in human urine by isoelectric focusing and immunoblotting

Genetic polymorphism of GC (vitamin D-binding protein) in human urine was revealed by isoelectric focusing and immunoblotting on thin-layer polyacrylamide gels containing 2 M urea. Urine samples from 530 unrelated Japanese from the Fukui district, being only 1-2 ml of original urine, were examined, and correct GC typing was achieved by comparison with the results of direct grouping using plasma. Six common and twelve rare phenotypes were observed. The frequencies of the genes were 0.473 for GC*1F, 0.241 for GC*1S, 0.254 for GC*2, and 0.032 for the total of six rare alleles.     

Gc subtypes determined by ultrathin-layer isoelectric focusing. Distribution in the Veneto population (Italy)

The distribution of Gc phenotypes in the population of Veneto was investigated by ultrathin-layer isoelectric focusing. In our sample (n = 732) the six common phenotypes, Gc 1S, 1F, 1S1F, 2, 2-1S, 2-1F and a further phenotype, GC 1S1C3, were observed and the following frequencies calculated: Gc 1S = 0.560792; GC 1F = 0.159153; Gc2 = 0.277323; Gc 1C3 = 0.002732. Our gene frequencies have been compared with those found in other populations.     

Plasminogen (PLG): a useful genetic marker for paternity examinations

The genetically determined polymorphism of plasminogen (PLG) was analyzed by isoelectric focusing on polyacrylamide gels. For analysis neuraminidase-pretreated sera were used. PLG was developed functionally by activation with urokinase and subsequent lysis of casein in an agar overlay. In a random sample of 957 unrelated healthy individuals from Southern Germany, three common phenotypes, PLG1, 2-1, and 2, and five rare variants were found. The allele frequencies were: PLG*1 = 0.7174, PLG*2 = 0.2780, and PLG*Var = 0.0046. The theoretical exclusion rate in cases of disputed paternity is 16.5%.     

Genetic polymorphism of human C1R subcomponent of the first complement component in the Japanese population

Genetic polymorphism of the C1R subcomponent of human complement component C1 has been investigated in neuraminidase treated EDTA plasma samples of 440 healthy Japanese individuals living in Tokyo by means of thin-layer polyacrylamide gel isoelectric focusing (PAGIEF) at pH 3.5-9.5 in the presence of 8.0 M urea followed by an electroblotting with enzyme immunoassay. Three common and three rare alleles were detected in the Japanese population. Of these, two common alleles were identical to C1R*1 and C1R*2 and other new alleles were tentatively designated C1R*3, C1R*4, C1R*5 and C1R*6, respectively. The results of the family studies suggested that the genetic model for C1R polymorphism assumed autosomal codominant Mendelian inheritance. The allele frequencies were estimated as C1R*1 = 0.4216, C1R*2 = 0.3602, C1R*3 = 0.2068, C1R*4 = 0.0091 and C1R*R(C1R*5 and C1R*6) = 0.0023, respectively. The distribution of allotypes fitted the Hardy-Weinberg equilibrium. The C1R system provides a useful genetic marker for human genetics, anthropologic studies and forensic science.     

Polymorphism of plasminogen in Tuscany (Italy)

The distribution of PLG phenotypes in the population of Tuscany (Central Italy) has been investigated by means of isoelectric focusing followed by immunofixation of desialyzed sera. In a random sample of 383 unrelated healthy blood donors registered at the Hospital of Pisa, three common phenotypes, PLG A, A-B, and B, and two rare variants were found. The allele frequencies calculated in our study were: PLG*A = 0.6749, PLG*B = 0.3225, and PLG*rare = 0.0026. The theoretical exclusion rate in cases of disputed paternity is 17.42%.     

吉林地区朝鲜族唾液酸性富含脯氨酸蛋白遗传多态性的研究

应用聚丙烯酸胺凝胶等电聚焦技术，调查了吉林地区226名朝鲜族个体唾液酸性富含脯氨酸蛋白二位点上共6种等位基因频率的分布：PRH1*1为0．0331，PRH1*2为0．2124，PRH1*4为0．7477，PRH1*6为0．0068；PRH2*1为0．7544，PRH2*2为0．2456。按Hardy－Weinberg法则进行吻合度检验，其观察值和期望值一致，并对吉林地区朝鲜族与其它地区人群酸性富含脯氨酸蛋白等位基因的差异性做了比较。PRH1和PRH2在吉林延边地区朝鲜族的个人识别能力分别为0.58和0．53，两者总鉴别机率为0．80；PRH1和PRH2的非父排除率为0．1875和0．1510，两者总非父排除率为0．3102。