Shigeki Nakamura

Genetic polymorphism of the seventh component of complement in a Japanese population

SummaryGenetic polymorphism of C7 in a Japanese population has been described, using polyacrylamide gel isoelectric focusing electrophoresis followed by an electrophoretic blotting technique. Phenotypes of C7 were classified into six common patterns, and observed phenotypes were produced by autosomal codominant at a single locus with three alleles. Three common alleles, designated C7*B, C7*M and C7*A, were found, and gene frequencies calculated from 494 individuals showed C7*B=0.858, C7*M=0.096 and C7*A=0.046, respectively. It is noteworthy that both C7*M and C7*A have polymorphic frequencies in the Japanese population. The distribution of phenotypes fitted the Hardy-Weinberg equilibrium. Results indicate that the electrophoretic blotting technique, which has high specificity and sensitivity, is applicable in the study of heterogeneity of protein antigens.

Genetic polymorphism of human factor I (C3b inactivator)

SummaryGenetic polymorphism of human factor I (C3b inactivator) has been described using polyacrylamide gel isoelectric focusing electrophoresis of neuraminidase-treated EDTA plasma samples followed by electrophoretic blotting technique. In 435 individuals three different common patterns were observed, and these were controlled by two common alleles at a single locus. The results of typing family material confirmed autosomal codominant Mendelian inheritance. Two common alleles were designated FI*B and FI*A, and gene frequencies were estimated to be 0.8931 and 0.1069 for FI*B and FI*A, respectively. The distribution of phenotypes fitted the Hardy-Weinberg equilibrium. Linkage studies failed to show close linkage between factor I and the major histocompatibility complex.

Genetic polymorphism of human plasminogen in the Japanese population: New plasminogen variants and relationship between plasminogen phenotypes and their biological activities

SummaryGenetic polymorphism of human plasminogen in the Japanese population has been described using polyacrylamide gel isoelectric focusing electrophoresis followed by immunofixation techniques. New variants PLG1′-1′, PLG2′-1, and rare 1 were detected. Fibrinolytic activity per milligram plasminogen of each phenotype, except for PLG1′-1′ and PLG1-1′, was within the normal range. The PLG1′ component was associated with no or less plasminogen activity, but possessed plasminogen antigen. Gene frequencies calculated from 750 individuals were PLG1; 0.9560, PLG2; 0.0113, PLG1; 0.0233, and PLG2; 0.094; respectively. The distribution of phenotypes fitted the Hardy-Weinberg equilibrium. In order to detect the plasminogen phenotypes the immunofixation technique was more suitable than the zymogram technique.

Genetic polymorphism of coagulation factor XIII B subunit in the Japanese population: description of three new rare alleles

SummaryPolyacrylamide gel isoelectric focusing (PAGIEF) of neuraminidase-treated EDTA plasma samples followed by electroblotting with enzyme immunoassay was performed to further investigate coagulation factor XIII B subunit (FXIII B) polymorphism. In 435 Japanese subjects PAGIEF patterns of FXIII B were classified into five common and three rare allotypes. This suggested that the FXIIIB*2 allele existed in the Japanese population in the same manner as in Caucasians. Three new rare allotypes were considered to be controlled by three rare alleles which were designated FXIIIB*13, FXIII B*14 and FXIIIB*15, respectively. The gene frequencies calculated from 435 Japanese subjects were FXIIIB*1=0.2977, FXIIIB*2=0.0184, FXIIIB*3=0.6805, FXIIIB*13= 0.0011, FXIIIB*14=0.0011, and FXIIIB*15=0.0011, respectively.

Genetic polymorphism of complement C6 and haplotype analysis between C6 and C7 in a Japanese population

SummaryGenetic polymorphism of C6 in the Japanese population has been described using polyacrylamide gel isoelectric focusing electrophoresis followed by the electrophoretic blotting technique, and haplotype analysis between C6 and C7 has also been investigated. In 565 plasma samples five different common patterns and three rare variant patterns were observed, and these were controlled by autosomal codominance at a single locus with three common and one rare alleles. These alleles were designated C6*B, C6*A, C6*B2, and C6*M, and gene frequencies were estimated to be 0.50265, 0.43186, 0.06018, and 0.00531 for C6*B, C6*A, C6*B2, and C6*M, respectively. It is noteworthy that C6*B2 has a polymorphic frequency in the Japanese population. The distribution of phenotypes fitted the Hardy-Weinberg equilibrium. Two combinations between C6 and C7 alleles, namely C6B-C7B and C6M-C7B, were shown to be in significant positive linkage disequilibrium. The presence of allelic combinations showing linkage disequilibrium suggests the close proximity between the C6 and C7 loci.

Genetic Polymorphism of Human Factor H (β1H Globulin)

Polyacrylamide gel isoelectric focusing (PAGIEF) of EDTA plasma and neuraminidase-treated plasma samples at pH 3.5–9.5 containing 8.0 Murea followed by an electroblotting with enzyme immunoassay was a

A new BF F variant by polyacrylamide gel isoelectric focusing

SummaryPolyacrylamide gel isoelectric focusing followed by electroblotting with enzyme immunoassay was done for the investigation of allotypes of properdin factor B (BF) in serum from 326 Japanese subjects. A new BF F variant tentatively designated BF*Fb1 (b=basic) was detected, the isoelectric point of each band of homozygous BF Fb1 being higher than of BF FF. Family data were in accordance with transmission by mendelian inheritance. The allele frequencies calculated from 326 Japanese subjects were 0.7945, 0.1825, 0.0215, and 0.0015 for BF*S, BF*F, BF*Fb1, and BF*F075, respectively, with that of variant BF*Fb1 being a polymorphic frequency. The distribution of phenotypes fitted the Hardy-Weinberg equilibrium.

Gene frequencies of S-adenosylhomocysteine hydrolase (SAHH) in a Japanese population

SummaryGenetic polymorphism of S-adenosylhomocysteine hydrolase (SAHH) was investigated in a total of 214 red blood cell samples from unrelated Japanese using the starch gel electrophoresis and the enzyme-specific staining procedures. Three common phenotypes were observed which corresponded to SAHH 1, SAHH 2-1, and SAHH 2, controlled by two alleles, SAHH*1 and SAHH*2. The estimated gene frequencies of SAHH*1 and SAHH*2 in Japanese were 0.953 and 0.047, respectively. This result was not different from European samples reported by Bissbort et al. (1983).

Polymorphism of complement component I in Mongoloid populations: a new genetic variant IF A2.

The genetic polymorphism of the complement component I (IF) was investigated in 282 Chinese, 239 Koreans and 198 Japanese. The 3 common IF phenotypes (A, AB and B) and a new rare IF phenotype (BA2) were observed. The obtained allele frequencies are as follows: IF*A = 0.0993 and IF*B = 0.9007 in Chinese; IF*A = 0.0921 and IF*B = 0.9079 in Koreans; IF*A = 0.0985, IF*B = 0.8990 and IF*A2 = 0.0025 in Japanese. These 3 Mongoloid populations showed a much higher degree of IF polymorphism than Caucasian populations.

Allele Frequencies of Human Complement Factor I in a Sample from Iwate, Northern Japan, with the Description of Geographical Cline

Serum samples from 270 healthy blood donors of Iwate prefecture, northern Japan, were examined for polymorphism of factor I (IF) by using polyacrylamide gel isoelectric focusing followed by semidry horizontal electroblotting with enzyme immunoassay. In 270 individuals four different patterns were observed, and these were controlled by two common alleles, IF*A and IF*B, and one rare allele, IF*A2. Allele frequencies were estimated to be 0.1019, 0.8963 and 0.0018 for IF*A, IF*B and IF*A2, respectively. The data of IF allele frequencies thus far reported in Japan excluding Okinawa Island were compared, and a statistically significant (p less than 0.01) geographical cline was detected for IF*A and IF*B alleles.