title: Genetic polymorphism of human factor H (beta 1H).
abstract: Human Factor H (beta 1H) was found to be polymorphic after neuraminidase treatment and isoelectric focusing (IEF) under completely denaturing conditions. Three variants, FH 1, FH 2, and FH 3, were identified in a sample population of 81 unrelated caucasoid individuals. Family studies demonstrated correct mendelian segregation of FH 1, FH 2, and FH 3. Our data indicate that these genetic variants of human Factor H are encoded by three codominant alleles, FH*1, FH*2, and FH*3, at a single autosomal locus FH. In the sample analyzed, the gene frequencies of FH*1, FH*2, and FH*3 were, respectively, 0.691, 0.302, and 0.006.
mesh_terms: D000483:Alleles; D000937:Antigen-Antibody Reactions; D011232:Chemical Precipitation; D003180:Complement C3b Inactivator Proteins / Q000032:analysis / Q000235:genetics* / Q000276:immunology; D017242:Complement Factor H; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic
chemical_list: C493495:CFH protein, human; D003180:Complement C3b Inactivator Proteins; D017242:Complement Factor H