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Linkage Relationship of C2 Deficiency, HLA and Glyoxalase I Loci 1
Author(s) -
Mahowald Maren L.,
Dalmasso Agustin P.,
Petzel Robert A.,
Yunis Edmond J.
Publication year - 1979
Publication title -
vox sanguinis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.68
H-Index - 83
eISSN - 1423-0410
pISSN - 0042-9007
DOI - 10.1111/j.1423-0410.1979.tb02311.x
Subject(s) - human leukocyte antigen , locus (genetics) , genetics , typing , haplotype , linkage disequilibrium , biology , hla a , genetic linkage , gene , allele , antigen
. Immunogenetic analysis of a homozygous C2‐deficient individual and family members demonstrated linkage of HLA‐A25, B18 and C2°. HLA‐D typing showed that 5 members typed with homozygous Dw2 typing cells from an individual with C2 deficiency but not with Dw2 typing cells from 2 individuals with normal C2. The homozygous C2‐deficient propositus and brother were HLA‐A and B homozygous but heterozygous at the HLA‐D and glyoxalase I loci. Therefore, in this family, the C2° gene is linked with two distinct haplotypes: HLA‐A25, B18, Dw2, GLO1 and HLA‐A25, B18, D unknown, GL02. These results could be explained by an ancestral recombinant event, which occurred between the C2° locus and HLA‐D locus in which C2° segregated with HLA‐B. This would suggest that the locus for the C2° gene maps between HLA‐B and HLA‐D on the sixth chromosome.