Summary
Polymorphism of the properdin factor B (BF) was investigated using an agarose gel immunofixation electrophoresis in 487 unrelated healthy adult Japanese who were already typed for HLA-A,-B,-C, and C2. Besides the previously reported phenotypes in Japanese (S, FS, and F), a rare heterozygous phenotype (tentatively maned FTS) was observed once. The estimated allele frequencies for BS * S, BF * F, and BF * FT (F Tokyo) were 0.801, 0.198, and 0.001, respectively.
The relative electrophoretic mobility of the variant band of type FTS was measured by Dr. G. Mauff to be F 0.75. The conversion fragment Bb of the type showed a double-banded pattern. BF hemolytic activity of the FTS individual was at the same level as other phenotypes.
Statistical tests for the phenotypic data of BF with HLA-A,-B,-C, and C2 indicated the presence of the following significant associations in Japanese: Aw33-BF * F, A11-BF * S, Aw24-BF * S, B15-BF * F, B17-BF * F, Bw44-BF * F, B7-BF * S, Bw52-BF * S, Bw54-BF * S, Bw59-BF * S, Cw3-BF * F, C2 * AT-BF * F, and C2 * A′-BF*F.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Albert ED, Rittner C, Grosse-Wilde H, Netzel B, Scholz S (1975) Recombination frequency and linkage disequilibrium between HL-A and Bf. In: Kissmeyer-Nielsen F (ed) Histocompatibility Testing 1975. Munksgaard, Copenhagen, pp 941–944
Alper CA, Boenisch R, Watson L (1972) Genetic polymorphism in human glycine-rich beta-glycoprotein. J Exp Med 135:68–80
Baur MP, Danilovs JA (1980) Population analysis of HLA-A, B, C, DR, and other genetic markers. In: Terasaki PI (ed) Histocompatibility Testing 1980. UCLA Tissue Typing Laboratory, Los Angeles, pp 955–993
Bender K, Mayerová A, Frank R, Hiller C, Wienker T (1977) Haplotype analysis of the linkage group HLA-A:HLA-B:Bf and its bearing on the interpretation of the linkage disequilibrium. Hum Genet 36:191–196
Bertrams J, Baur MP (1979) HLA-A, B, Bf three point association of 1,072 haplotypes in a German population. Tissue Antigens 14: 317–324
Dausset J, Legrand L, Lepage V, Contu L, Marcelli-Barge A, Wildloecher I, Benajam A, Meo T, Degos L (1978) A haplotype study of HLA complex with special reference to the HLA-DR series and to Bf, C2 and Glyoxalase I polymorphisms. Tissue Antigens 12: 297–307
Hiller C, Bischoff M, Schmidt A, Bender K (1978) Analysis of the HLA-ABC linkage disequilibrium: Decreasing strength of gametic association with increasing map distance. Hum Genet 41:301–312
Horai S (1976) Genetic polymorphism of human serum factor B (Bf) in Japanese. Jpn J Hum Genet 21:177–186
Horai S, Juji T, Nakajima H (1979) Haplotype analysis of the linkage group HLA-A:HLA-B:Bf in Japanese. Hum Genet 51:307–314
Lachmann PJ, Hobart MJ (1977) Complement technology. In: Weir DM (ed) Handbook of experimental immunology, 3rd edn. Blackwell Scientific Publications, Oxford, pp 5A. 12–16
Mattiuz PL, Ihde D, Piazza A, Ceppellini R, Bodmer WF (1970) New approaches to the population genetic and segregation analysis of the HL-A system. In: Terasaki PI (ed) Histocompatibility Testing 1970. Munksgaard, Copenhagen, pp 193–205
Mauff G, Gauchel FD, Hitzeroth HW (1976) Polymorphism of properdin factor B in South African Negroid, Indian and Colored populations. Hum Genet 33:319–322
Mauff G, Hauptmann G, Hitzeroth HW, Gauchel F, Scherz R (1978) The nomenclature of properdin factor B allotypes. Z Immunitaetsforsch 154:115–120
Meo T, Atkinson J, Bernoco M, Bernoco D, Ceppellini R (1976) Mapping of the HLA locus controlling C2 structural variants and linkage disequilibrium between alleles C22 and Bw15. Eur J Immunol 6:916–919
Olaisen B, Teisberg D, Gedde-Dahl T, Thorsby E (1975) The Bf locus in the HLA region of chromosome 6: Linkage and association studies. Humangenetik 30:291–296
Pickbourne P, Piazza A, Bodmer WF (1978) Population analysis. In: Bodmer MF, Batchelor JR, Bodmer JG (eds) Histocompatibility Testing 1977. Munksgaard, Copenhagen, pp 259–278
Raum D, Glass D, Carpenter CB, Schur PH, Alper CA (1979) Mapping of the structural gene for the second component of complement with respect to the human major histocompatibility complex. Am J Hum Genet 31:35–41
Shows TB, Alper CA, Bootsma D, Dorf M, Douglas T, Huisman T, Kit S, Klinger HP, Kozak C, Lalley PA, Lindsley D, McAlpine PJ, McDougall JK, Meera Khan P, Meisler M, Morton NE, Opitz JM, Partridge CW, Payne R, Roderick TH, Rubinstein P, Ruddle FH, Shaw M, Spranger JW, Weiss K (1979) International system for human gene nomenclature (1979). Cytogenet Cell Genet 25:96–116
Tokunaga K, Omoto K, Araki C, Juji T (1980) Genetic polymorphism of the second component of human complement (C2) in Japanese. Jpn J Hum Genet 25:287–293
Tokunaga K, Araki C, Juji T, Omoto K (1981a) Genetic polymorphism of the complement C2 in Japanese. Hum Genet 58:213–216
Tokunaga K, Omoto K, Maeda H, Juji T, Ishiba S, Maruyama H (1981 b) Bf and C2 polymorphism in Japanese patients with juvenile-onset diabetes mellitus: Existence of a variant Bf allele. Tissue Antigens (in press)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Tokunaga, K., Araki, C., Juji, T. et al. Polymorphism of properdin factor B in Japanese. Description of a rare variant and data of association with HLA and C2. Hum Genet 60, 42–45 (1982). https://doi.org/10.1007/BF00281262
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00281262