Summary
A family was found which indicated the existence of a silent allele (BF * QO) at the locus for complement factor B. Three generations with eight members were studied. Four individuals were considered to be heterozygous for B deficiency because of unusual segregation patters of the BF electrophoretic variants and low levels of B. Haplotype study on the other HLA-linked markers supported the presumption. No unusual products were detected by immunoblotting after sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE).
This is a preview of subscription content, log in via an institution to check access.
References
Agnello V (1978) Complement deficiency states. Medicine 57:1–23
Hashimoto M, Harada S, Omoto K (1978) Red cell glyoxalase I polymorphism in Japanese: confirmation of a low GLO1 frequency. Jinrui Idengaku Zasshi 23:139–143
Laemmli UK (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227:680–685
Mauff G, Federmann G, Hauptmann G (1980) A hemolytically inactive gene product of factor B. Immunobiology 158:96–100
Mauff G, Alper CA, Awdeh Z, Batchelor JR, Bertrams J, Bruun-Petersen G, Dawkins RL, Démant P, Edwards J, Grosse-Wilde H, Hauptmann G, Klouda P, Lamm L, Mollenhauer E, Nerl C, Olaisen B, O'Neill G, Rittner C, Roos MH, Skanes V, Teisberg P, Wells L (1983) Statement on the nomenclature of human C4 allotypes. Immunobiology 164:184–191
Suciu-Foca N, O'Neill G, Rubenstein P (1980) Evidence for the existence of a possible Bf ‘null’ allele. In: Terasaki PI (ed) Histocompatibity testing 1980. UCLA Tissue Typing Laboratory. Los Angeles, pp 935–936
Tokunaga K, Araki C, Juji T, Omoto K (1981) Genetic polymorphism of the complement C2 in Japanese. Hum Genet 58: 213–216
Tokunaga K, Araki C, Juji T, Omoto K (1982) 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
Tokunaga K, Omoto K, Sakurai M, Saji H, Maruya E, Juji T (to be published) A possible BF ‘silent’ allele (BF * QO). Transplant Proc
Towbin H, Staehelin T, Gordon J (1979) Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications. Proc Natl Acad Sci USA 76: 4350–4354
Weidinger S, Schwarzfischer F, Cleve H (1979) Properdin factor B-polymorphism: an indication for the existence of a Bf0-allele. Z Rechtsmed 83:259–264
Yukiyama Y (1981) Functional assay of factor B. I. Purification of cobra venom factor and hemolytic assay of factor B (in Japanese). Allergy 30:316–323
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Tokunaga, K., Omoto, K., Yukiyama, Y. et al. Further study on a BF silent allele. Hum Genet 67, 449–451 (1984). https://doi.org/10.1007/BF00291408
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00291408