TY - JOUR
T1 - Linkage Relationship of C2 Deficiency, HLA and Glyoxalase I Loci
AU - Mahowald, Maren L
AU - Dalmasso, Agustin P.
AU - Petzel, Robert A.
AU - Yunis, Edmond J.
PY - 1979/12
Y1 - 1979/12
N2 - Abstract. 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.
AB - Abstract. 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.
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U2 - 10.1111/j.1423-0410.1979.tb02311.x
DO - 10.1111/j.1423-0410.1979.tb02311.x
M3 - Article
C2 - 161677
AN - SCOPUS:0018566121
SN - 0042-9007
VL - 37
SP - 321
EP - 328
JO - Vox Sanguinis
JF - Vox Sanguinis
IS - 6
ER -