title: Polymorphism of factor H (beta 1H globulin) in Japanese: description of a new allele.
abstract: Polymorphism of factor H (HF) was investigated in 1060 unrelated Japanese individuals using isoelectric focusing and immunoblotting. Besides 6 different HF types a null type and an unusual type were observed. The family analysis suggested the hereditary occurrence of a new variant allele HF*C. The population data fitted the Hardy-Weinberg equilibrium, assuming that the null allele HF*QO occurs commonly. The allele frequencies were HF*A = 0.407 +/- 0.011, HF*B = 0.491 +/- 0.011, HF*A1 = 0.011 +/- 0.002 and HF*QO = 0.091 +/- 0.006. The HF polymorphism in Japanese was shown to be controlled by the above 4 common alleles.
authors.affiliation: Department of Legal Medicine, Yamanashi Medical University, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Kido
authors.forename: Y
authors.initials: Y
authors.lastname: Kimura
authors.forename: T
authors.initials: T
authors.lastname: Nishizono
authors.forename: M
authors.initials: M
authors.lastname: Oya
authors.forename: Z
authors.initials: Z
authors.lastname: Shiozawa
mesh_terms: D000483:Alleles; D017242:Complement Factor H / Q000235:genetics* / Q000302:isolation & purification; D005260:Female; D005787:Gene Frequency; D006801:Humans; D015151:Immunoblotting; D007525:Isoelectric Focusing; D007564:Japan; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H