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。     

The phenotypic frequencies of group specific component and alpha-2-HS-glycoprotein in three ethnic groups. The use of these proteins as racial markers in forensic biology

The phenotypic frequencies of group-specific component (Gc) and alpha-2-HS-glycoprotein (A2HS) were determined in White European, Asian and Afro-Caribbean populations. Typical allele frequencies were observed for Gc, with Gc 1S being the major allele for the first two groups and Gc 1F being the major allele for Afro-Caribbeans. For all groups the dominant A2HS allele was A2HS 1, although Asians had a significantly higher proportion of this allele than the White Europeans. Gc and A2HS either singly or in combination with other blood grouping systems provide good discriminating potential. The A2HS 10 allele was detected with a very low frequency in the White European group (A2HS 10 = 0.0013) and was not detected in the Asian group, while the Afro-Caribbean group had a relatively high frequency of this allele (A2HS 10 = 0.0966). The different distribution of the Gc 1F and A2HS 10 alleles in White Europeans and Asians compared with Afro-Caribbeans, can be used to determine the likelihood of blood coming from an Afro-Caribbean.     

Gc、Tf和C_3表型的同步检测

血清蛋白多态性的同步检测可节省检材、简化操作步骤、省时省力.本文用醋酸纤维素薄膜电泳免疫固定法同步检测血清型特异成份(Group-Specific component,Gc)、转铁蛋白(Transferrin,Tf)和补体第三成份(Complment 3,C_3)的表型,调查了成都地区汉族116名无亲缘关系的健康献血员的表型频率,现将结果报导如下:     

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。     

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.     

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.     

应用窄范围两性电解质聚丙烯酰胺凝胶等电聚焦法检验人血痕中的Gc亚型

采用窄范围两性电解质聚丙烯酰胺凝胶等电聚焦加免疫吸印技术,对人血痕中 Gc 亚型进行分型,并调查了北京地区284名无关汉族群体的 Gc 亚型的分布及基因频率。结果显示:Gc~(IF)0.4287,Gc~(IS)0.2500.Gc~20.3222.观察值与期望值吻合度良好(ΣX~2=0.7530,P>0.80).Gc 的个人识别率为0.6507.且室温下保存7周的血痕可以准确判型。将调查结果与中国其它地区及国外不同人种 Gc 亚型的表型的分布与基因频率进行了比较,发现地理及人种间差异明显。     

Vitamin D binding protein (Gc) subtypes by isoelectric focusing and immunoblotting

The polymorphism of the human vitamin D binding protein (Gc system) was investigated in a total of 149 sera from unrelated healthy Egyptians residing in Tanta City, Gharbiya Governorate, Nile Delta of Egypt, using isoelectric focusing (IEF) in thin-layer polyacrylamide gel followed by immunoblotting. The estimated gene frequencies were Gc1s = 0.540, Gc1f = 0.242 and Gc2 = 0.218.     

The detection of group specific component (Gc) in the general population of West Virginia

An isoelectric focusing method is described for the detection of group specific component (Gc) in forensic casework. Gc can be subtyped in one day using this reliable and reproducible method. The gene frequency data collected indicate that the occurrence of Gc phenotypes in the population of West Virginia is consistent with established frequencies for the system.     

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.     

The collaborative study on typing group-specific component by eight forensic science laboratories

This report describes a collaborative study on typing group-specific component (GC), conducted between the Central Research and Support Establishment and the forensic science laboratories of England, Wales and Northern Ireland. A population study (n=114) was performed. Fifty blood donors were selected to provide a distribution, slightly biased from normal, in favour of the GC 1F-1F and GC 1F-1S phenotypes. A protocol was devised for preparing large bloodstains. The strongest GC bands were obtained from the edge of a stain after the blood had been treated with K+/EDTA. Each laboratory received a representative portion of the large bloodstains for GC typing. Five of the eight laboratories correctly grouped all the bloodstains. No errors directly attitributable to the system were recorded in over 800 tests, indicating that GC in bloodstains can be typed reliably using the combination of isoelectric focusing in ultrathin narrow pH interval gels followed by immunofixation and silver staining.     

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。     

Population data on the PCR-based loci LDLR,GYPA, HBGG,D7S8, Gc,HLA-DQA1, and D1S80 from Arabs from Dubai

Population data were generated for the loci LDLR, GYPA, HBGG, D7S8, Gc, HLA-DQA1, and D1S80 from 180 Arabs from Dubai. Except for D7S8 (P = 0.003), the genotype frequency distributions for the loci do not deviate from Hardy Weinberg expectations. There was no evidence for departures from expectations of independence between the loci. Using a test for homogeneity, the loci LDLR, GYPA, D7S8, and Gc were similar between the Dubaian Arab population sample and an Arab population sample from Palestine and the occupied territories, while the loci HBGG (P = 0.003), DQA1 (P < 10⁻³), and D1S80 (P = 0.020) were statistically different.     

Brazilian population data on the polymerase chain reaction-based loci LDLR,GYPA, HBGG,D7S8, and Gc

Gene and genotype frequencies in relation to the low density lipoprotein receptor (LDLR), glycophorin A (GYPA), hemoglobin G gammaglobin (HBGG), D7S8, and group specific component (Gc) loci were determined in a sample of 344 unrelated individuals (250 whites and 94 mulattoes) living in the city of S?o Paulo, Brazil. DNA was extracted from 5 mL of peripheral blood obtained from each of the 344 volunteers by the salting-out procedure. Polymerase chain reaction and reverse dot-blot analysis were performed with the Amplitype PM PCR Amplification and Typing Kit (Polymarker Multiplex; Applied Biosystems, Foster City, CA) under conditions recommended by the manufacturer. Estimated allele frequencies in the white sample were in the usual range of that of other United States and European population groups. In any case, genotype distributions for these loci did not deviate significantly from Hardy-Weinberg equilibrium proportions. Only 1 marginally significant (0.01 < P < 0.05) association, between loci HBGG and Gc, was detected in our mulatto sample out of a total of 20 possible pairwise comparisons of the 5 loci for both data sets. Allele frequencies were significantly different (P < 0.001) at the HBGG and Gc loci when the white and mulatto samples were compared. Biologic relationship exclusion probabilities (test powers) were calculated for the data. A Brazilian database has thus been established for the loci LDLR, GYPA, HBGG, D7S8, and Gc, 5 polymerase chain reaction-based loci systems that have been shown to be a useful tool for biologic relationship identification and exclusion.     

Group specific component subtyping in bloodstains by separator isoelectric focusing in micro-ultrathin polyacrylamide gels followed by immunoblotting

The identification of group specific component (Gc) subtypes derived from blood-stains by separator isoelectric focusing in micro-ultrathin polyacrylamide gels (interelectrode distance: 50 mm) containing 4.5 to 5.4 pharmalytes is described. The separation achieved between Gc 1F and Gc 1S bands is compared favorably with that obtained using separator isoelectric focusing in conventional polyacrylamide gels dimensions (interelectrode distance: 110 to 120 mm). The technique is rapid and economical, and the immunoblotting method described is more sensitive than immunofixation followed by silver staining.     

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.     

Data on the PCR Turkish population based loci: LDLR, GYPA, HBGG, D7S8, and Gc

Allele and genotype frequencies for the five PCR-based loci were analyzed in 157 unrelated Turkish individuals. The five PCR-based loci included LDLR, GYPA, HBGG, D7S8, and Gc. The results of the chi-square and exact tests showed that the genotype distribution at the LDLR, GYPA, D7S8, and Gc loci did not significantly differ from the Hardy-Weinberg Expectation (HWE). However, the genotype distribution at the HBGG locus did not conform to HWE. Moreover, the genotype frequencies calculated in this study were compared with the published genotype frequencies of US African American and US Caucasian populations. The Turkish population was significantly different at the HBGG locus from the US Caucasian population. However, there were highly significant differences at the LDLR, HBGG, and Gc loci between the Turkish and African American populations.     

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.     

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.     

Population data for Southern Spain and Canary Islands of HLADQA1, PM and D1S80 loci

Allele frequencies for seven polymerase chain reaction (PCR)-based DNA genetic markers in two Spanish populations (Southern Spain and Canary Islands), were determined and compared. The loci analysed were HLADQA1, LDLR, GYPA, HBGG, D7S8,Gc, and D1S80.