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%.     

Plasminogen (PLG) polymorphism in northern Japanese: confirmation of PLG*M6 allele

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.     

The polymorphism of plasminogen (PLG) by ultrathin-layer isoelectric focusing. Distribution in the Veneto population (Italy)

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.     

Further evidence of a silent plasminogen (PLG) allele in two paternity cases

Routine paternity testing has yielded two different cases of an apparent inverse homozygosity in the plasminogen (PLG) system. In one case, the child presented the phenotype PLG A and his putative father the type PLG B. The alleged father could not be excluded from the paternity in 25 additional blood group marker systems (biostatistical probability of paternity W greater than 99.75%). In the other case an incompatibility was found in a mother- child pair. Analysis of PLG was carried out by isoelectric focusing on neuraminidase-treated sera. In both cases the immunologic and functional detection showed weaker banding pattern of the affected PLG types. The assumption of a silent allele in the PLG system was confirmed by quantitative investigations. The allele frequency of PLG*Q0 in the South German population was estimated to be 0.0013. In the same sample the variant PLG A3 has been shown to be polymorphic.     

Plasma protein and red cell enzyme groups in Galicia (north west Spain)

Galactose-1-phosphate uridyl transferase (GALT), esterase D (EsD), and plasminogen (PLG) phenotypes were determined by isoelectric focusing in thin-layer polyacrylamide gels (PAGIF) in a random sample from Galicia. Haptoglobins (Hp) were determined by conventional electrophoresis. The following gene frequencies were observed: for GALT: GALTN: 0.930; GALTD1: 0.044; GALTD2: 0.025; for EsD: EsD1: 0.874; EsD2: 0.104; EsD3: 0.021; for PLG: PLG1: 0.800; PLG2: 0.199; for Hp: Hp1: 0.426; Hp2: 0.573. Population data results of all electrophoretic markers typed until now in Galician population are also included.     

Polymorphism of the plasminogen (PLG) system in Cádiz Province, southern Spain

In this work, the authors report a plasminogen (PLG) system genetic-population study in a sample of 378 healthy subjects, of both sexes and unrelated, all resident in the province of Cádiz in Southern Spain. In this study, the PLG types were determined by isoelectric focusing in polyacrylamide gels (PAGIF), followed by staining with Coomassie blue. The genic frequencies obtained were the following: PLG A = 0.833 333 3; PLG B = 0.166 666 7.     

Genetic polymorphisms of orosomucoid ORM1 and ORM2 in a Japanese population: occurrence of new ORM1 alleles

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.     

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。     

用超薄层聚丙烯酰胺凝胶等电聚焦法调查西藏藏族群体GC亚型频率报道

作者采用超薄层聚丙烯酰胺凝胶等电聚焦法检测了142例西藏地区无关藏族青年男女GC亚型,发现6例变异型,其中2例1A变异;1例1c变异;3例1F1S-2变异,这种新的变异型,迄今国内外尚未见报道。GC亚型的基因频率分别为:GC*1F=0.3921、GC*1S=0.3705、GC*2=0.2266、GC*1A=0.0072、GC*1C=0.0036。个人识别机率为0.8079;非父排除率为0.3430。     

Transferrin polymorphism detected in human urine using isoelectric focusing followed by immunoblotting

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.     

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.     

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.     

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。     

Polymorphism of EsD by isoelectric focusing: description of the new allele EsD*Kofu and phenotyping in bloodstains

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.     

Haptoglobin subtypes in Berlin, GDR. A simple procedure for haptoglobin purification and subtyping

Sera were obtained from 1,275 blood donors in Berlin, probands involved in paternity tests, and from 119 families with 235 children; the sera were subtyped by isoelectric focusing, following preparation and reductive molecular cleavage of haptoglobin. In this paper, an uninvolved preparation technique is described for routine testing. Allelic frequencies are: Hp *1F = 0.1471; *1S = 0.2502; *2FF = 0.0020; *2FS = 0.5753; *2SS = 0.0251. Only one deviation from autosomal codominant inheritance was recorded in the family examinations, with illegitimacy considered possible. In the region of Berlin, the changes of ruling out uninvolved individuals in paternity suits have gone up from 18% (conventional technique recording two frequent alleles) to 33% (subtyping).     

DIA3 phenotyping in human semen and seminal stains by isoelectric focusing

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.     

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.     

Properdin factor B(Bf) polymorphism in the population of Veneto, Italy

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.     

Phenotyping of alpha-2-HS glycoprotein in bloodstains by isoelectric focusing and immunoblotting

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.     

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.