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1.
Gene frequencies of coagulation factor XIIIB polymorphism were determined in a random population sample of east Westphalia (n = 417). Furthermore, mendelian inheritance of alleles was examined in 60 families. Determinations were made after treatment of serum samples with neuraminidase by immunofixation on agarose gels. All six phenotypes were observed in our population sample. The gene frequencies were: FXIIIB1 = 0.71, FXIIIB2 = 0.11, FXIIIB3 = 0.18. The family data confirm the hypothesis of autosomal inheritance of three common alleles and disprove the two-allele model of Kera et al. [5]. 相似文献
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Genetic polymorphisms of orosomucoid ORM1 and ORM2 in a Japanese population from northern Japan were investigated using isoelectric focusing (IEF) in ultrathin layer polyacrylamide gels containing Triton X-100 and immunofixation. Nine ORM1 phenotypes which are determined by four common and one rare alleles were observed. Two of the identified alleles at this locus were considered to be new. The ORM2 pattern was classified into 14 phenotypes as products of one common and two variant alleles. The estimated allele frequencies were ORM1*1 = 0.668, ORM1*2 = 0.170, ORM1*2.1 = 0.136, ORM1*5.2 = 0.022 and ORM1*7 = 0.004; ORM2*1 = 0.972, ORM2*3 = 0.006 and ORM2*6 = 0.022. 相似文献
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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. 相似文献
4.
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。 相似文献
5.
C Crestani L Caenazzo P Cortivo C Scorretti C Caenazzo 《Zeitschrift für Rechtsmedizin》1988,101(2):81-85
The distribution of Bf phenotypes in the population of Veneto was investigated by agarose gel electrophoresis and immunofixation. In our sample (n = 592), the seven common phenotypes F, S, F-S, S-S0.7, S-F1, F-S0.7, F-F1 were observed and the following gene frequencies calculated: Bf*S = 0.7399; Bf*F = 0.2280; Bf*F1 = 0.0177; Bf*S0.7 = 0.0144. These gene frequencies are compared to those found in other populations. Analysis of 21 mother-child pairs was in agreement with an autosomal codominant inheritance. 相似文献
6.
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%. 相似文献
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Genetic polymorphism of human C1R subcomponent of the first complement component in the Japanese population 总被引:1,自引:0,他引:1
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. 相似文献
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中国汉族群体人类补体C8A多态性 总被引:6,自引:2,他引:4
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 相似文献
11.
The polymorphism of DIA3 was investigated by isoelectric focusing in semen samples from 235 unrelated Japanese volunteers and patients. Besides the three common phenotypes seven samples of the type 3-1 were observed. However, readable isoenzyme patterns were not demonstrated in semen samples of oligospermia under about 10 X 10(6)/ml sperm cells. The allele frequencies were DIA3*1 = 0.821, DIA3*2 = 0.164, and DIA3*3 = 0.015. The DIA3*1 frequency in oligospermia (0.765) was lower than that in normospermia (0.836). The isoelectric focusing method was successfully applied to phenotyping DIA3 in seminal stains; each phenotype was demonstrated at 37 degrees C for up to 4 weeks, at room temperature for up to 8 weeks, and at 4 degrees C for over 12 weeks after stain formation. In vaginal swabs the isoenzyme bands were very faint and not identifiable. 相似文献
12.
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%. 相似文献
13.
The BF F subtypes are detectable in the Ba fragment of factor B 总被引:1,自引:0,他引:1
The unanimous recognition of the two subtypes FA and FB of the BF*F allele has repeatedly been challenged. In the present investigation we are reporting about the unequivocal and simple detection of the subtypes on the Ba fragment of factor B by immunofixation isoelectric focusing after conversion with inulin. The common BF phenotypes F, S, and FS could be diagnosed in addition to the subtypes of BF*F which were observed in two regions acidic of the F major band. By comparison of standard phenotypes the subtypes in the Ba fragment corresponded to those of native factor B. All BF bands could be attributed to the Ba fragment by developing Western Blots with monoclonal antibodies directed against Ba. The distribution of the major BF phenotypes and alleles and the BF F subtypes in a population sample of 527 unrelated individuals from F.R.G. was in Hardy-Weinberg equilibrium. The allele frequency was determined to be 0.0731 for BF*FA, and 0.1053 for BF*FB. The advantages of determining the subtypes on the Ba fragment are: broadening of the FA/FB corridor, a more reliable diagnosis of phenotypes, improved distinction between homozygous FA and heterozygous FAFB types, and recognition of common BF phenotypes as well as subtypes in aged sera. It is suggested that the problem in the designation of BF F subtypes by different groups should be resolved by an international reference typing. 相似文献
14.
Genetic polymorphism of transferrin (TF) was revealed in human urine by isoelectric focusing and immunoblotting on thin-layer polyacrylamide gels. Using this technique more than 300 urine samples were examined, and correct TF typing from a small volume of urine (approx. 0.5 ml) was achieved, in comparison with the results of direct grouping for plasma. Three common phenotypes, TF C1, C2-1 and C2, were differentiated. In addition, the rare types TF C1D, C2D, and C1B were observed. The frequencies of the TF alleles in our samples were found to be: TF*C1 = 0.7265, TF*C2 = 0.2624, TF*D = 0.0083 and TF*B = 0.0028. 相似文献
15.
The polymorphism of EsD was investigated in 1115 unrelated Japanese individuals by isoelectric focusing. Besides the three common phenotypes two heterozygotes EsD 7-1 and EsD 7-2 were observed. The gene frequencies were: EsD*1 = 0.6234, EsD*2 = 0.3663, and EsD*7 = 0.0103. In addition, a rare variant was detected in a probandus living in the city of Kofu. The family analysis suggested the hereditary occurrence of a new allele EsD*Kofu. The isoelectric focusing method was successfully applied to phenotyping EsD in bloodstains; each phenotype was demonstrated at 37 degrees C for up to 2 weeks, at room temperature for up to 9 weeks, and at 4 degrees C for over 20 weeks after stain formation. 相似文献
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Plasminogen (PLG) phenotyping has been performed on 450 unrelated individuals from northern Japan, using wide-scale ultrathin layer polyacrylamide gel isoelectric focusing combined with immunoblotting. One common phenotype and six rare ones were observed. The rare phenotypes included the recently detected allele PLG*M6 in a new combination with PLG*M5 allele. The estimated allele frequencies for PLG*A, PLG*A3, PLG*M2, PLG*M5, PLG*M6, PLG*B, and PLG*B2 were 0.961, 0.009, 0.001, 0.016, 0.001, 0.003, and 0.009, respectively. 相似文献
18.
P Cortivo L Caenazzo C Crestani C Scorretti P Benciolini E Pornaro 《Zeitschrift für Rechtsmedizin》1986,96(4):275-278
The distribution of plasminogen phenotypes in the population of Veneto was investigated by ultrathin-layer isoelectric focusing. In our sample (n = 1325), the three common phenotypes PLG1, PLG2, PLG2-1 and two further phenotypes PLG1-V and PLG2-V were, observed and the following frequencies calculated: PLG1 = 0.84038; PLG2 = 0.15811; PLGV = 0.00151. These gene frequencies are compared to those found in other populations. Analysis of 41 mother-child pairs was in agreement with an autosomal codominant inheritance. 相似文献
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A S Thomas 《Journal - Forensic Science Society》1989,29(5):325-330
A sensitive immunoblotting procedure has been applied to the detection of alpha-2-HS-glycoprotein (A2HS) phenotypes from control and casework bloodstains. A2HS phenotypes were separated by thin layer polyacrylamide gel isoelectric focusing (PAGIEF) in gels containing Pharmalyte pH 4.2-4.9. After transfer to nitrocellulose by a rapid capillary blot, the A2HS phenotypes were developed using a double antibody enzyme-immunoassay. The evaluation of A2HS phenotyping of casework material was undertaken in parallel with phosphoglucomutase (PGM) phenotyping by PAGIEF. A total of 598 water extracts from casework bloodstains have been tested. Positive results were obtained in 84% and 75% of samples for PGM and A2HS respectively. The A2HS gene frequencies A2HS*1 = 0.6420, A2HS*2 = 0.3530, and A2HS*3 = 0.0050 were determined from a survey of 1000 people in Brisbane. 相似文献