A BF subtype “Fb1” is a marker gene of some mongoloid populations

Suzuki, Koichi; Mutoh, Shinya; Cey-Bert, G.; Ito, Shigenori; Matsumoto, Hideo

doi:10.1007/bf01876462

Cited by 2 publications

(1 citation statement)

References 30 publications

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“…As for BF polymorphism, two most common alleles, BF*S and BF*F, occurred at frequencies of 0.807 and 0.186, respectively. Besides the two common alleles, two rare alleles, BF*S07 and BF*Fbl (20), were observed. For C4 loci, seven different alleles (C4A*I, "2, :b3, "4, *45, "6, *91), two duplicated haplotypes (C4A*3+3 and C4A*3+2) and null allele(s) (C4A"QO) were observed at the C4A locus, whereas six expressed alleles (C4A*1, *2, *3, *4, ' "5, "5) and null allele(s) (C4B"QO) were identified at the C4B locus.…”

Section: Resultsmentioning

confidence: 99%

Complement C4A, C4B and BF haplotypes in Koreans

Park

Juji

et al. 1996

Tissue Antigens

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Specific alleles at C4A, C4B and BF loci occur in populations and are inherited in complotypes, which are linked with particular HLA haplotypes. Considerable differences in complement allele and complotype frequencies have been observed among various ethnic groups. In the present study, 109 Korean families were analyzed for complement and complotype polymorphism. Thirty-four different complotypes were detected: the most common was BF*S-C4A*3-C4B*1 (S31) with a frequency of 42.2%, followed by S42 (14.3%) and F31 (13.8%). Three complotypes, S42, F31, and FQ01, showed positive linkage disequilibrium. Some of the complotypes were linked with characteristic HLA haplotypes. Two complotypes carrying duplicated C4A genes, S3+31(BF*S-C4A*3-C4A*3-C4B*1) and S3+2Q0(BF*S-C4A*3-C4A*2-C4B*Q0), were exclusively associated with HLA-A24-Cw7-B7-DR1-DQ1 and A24-CBL-B52-DR15-DQ1 haplotypes, respectively. Twelve families showed recombinant haplotypes, nine in the class I region, three between the HLA-B and HLA-DR loci, and none in the class III region. Maternal recombination occurred twice as frequently as paternal. The results obtained in this study represent the frequencies of complotypes and extended HLA haplotypes of well-defined Koreans, based on a family study.

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Section: Resultsmentioning

confidence: 99%

Complement C4A, C4B and BF haplotypes in Koreans

Park

Juji

et al. 1996

Tissue Antigens

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Hereditary subtypic patterns detected in the Ba fragment of complement factor B: Occurrence of four common alleles in Japanese

et al. 1990

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A procedure which can detect subtype-specific minor bands of factor B (BF) by polyacrylamide gel isoelectric focusing is presented. After zymosan-mediated fragmentation of BF in serum via alternative pathway for complement activation, serum samples are subjected to isoelectric focusing in a narrow pH range (4.2-4.9). The Ba fragments are detected by using immunoblotting. In addition to the previously reported minor bands with subtypic specificities, heterogeneities are observed in other minor band group, where a single minor band corresponds exclusively to a subtype in a regular combination with the previously announced subtypic patterns. A one-to-one correspondence of a single band to each subtype provides an unambiguous determination for three subtypic phenotypes deduced from the two divided BF*F alleles, BF*FA and BF*FB. An autosomal codominant heredity is confirmed through segregation analysis. A population survey reveals that four common alleles, BF*S, BF*FA, BF*FB, BF*Fb1, occur in a Japanese population and the former three alleles, except BF*Fb1, occur in a Cambodian population. The presence or absence of a single anodal minor band was found to be the only difference after neuraminidase treatment of FA and FB, implying that an amino acid substitution responsible for the FA-FB subtypic difference is involved in an additional acquisition in FA of an oligosaccharide unit with a charged sialic acid.

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A BF subtype “Fb1” is a marker gene of some mongoloid populations

Cited by 2 publications

References 30 publications

Complement C4A, C4B and BF haplotypes in Koreans

Complement C4A, C4B and BF haplotypes in Koreans

Hereditary subtypic patterns detected in the Ba fragment of complement factor B: Occurrence of four common alleles in Japanese

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