title: Three Japanese families with members carrying C7 silent allele (C7*Q0). Possibility for an association between C7*Q0 and C6*B.
abstract: Three Japanese families with members carrying C7 silent allele(s) (C7*Q0) are presented. C6 types in the family members were also examined, and it was found that C7*Q0 was transmitted from a parent to offsprings as a haplotype, C7*Q0-C6*B. In another study of C6 types in sera from 3 volunteer blood donors with homozygous C7 deficiencies, the C6 phenotypes were found to be C6 B (homozygote). It seems remarkable that C7*Q0 can be associated with C6*B.
authors.affiliation: Department of Legal Medicine, School of Medicine, Ehime University, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Nishimukai
authors.forename: H
authors.initials: H
authors.lastname: Kitamura
authors.forename: Y
authors.initials: Y
authors.lastname: Takeuchi
authors.forename: T
authors.initials: T
authors.lastname: Shinomiya
authors.forename: Y
authors.initials: Y
authors.lastname: Tamaki
mesh_terms: D000483:Alleles; D003183:Complement C6 / Q000172:deficiency / Q000235:genetics*; D003184:Complement C7 / Q000172:deficiency / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007564:Japan; D008297:Male; D010375:Pedigree; D010641:Phenotype
chemical_list: D003183:Complement C6; D003184:Complement C7