In the course of study of families for the sixth chromosome markers HLA A, C, B, D/DR, BF, and C2, the two loci for C4, C4A, and C4B, and glyoxalase I, we encountered five examples of probable duplication of one or the other of the two loci for C4. In one of these, both parents and one sib expressed two different structural genes for C4B, one sib expressed one, and one sib expressed none, suggesting that two C4B alleles were carried on a single haplotype: HLA-A2, B7, DR3, BFS1, C2C, C4A2, C4B1, C4B2, GLO1. In a second case, two siblings inherited C4B 1 and C4B 2 from one parent and C4B Q0 from the other. This duplication appeared on the chromosome as HLA-AW33, B14, DR1, BFS, C2C, C4A2, C4B1, C4B2, GLO2. In a third, very large family with 3 generations, a duplication of the C4B locus occurred which was followed in 2 generations. In one individual, there were three C4B alleles and two C4A alleles. One of the C4B alleles had a hemolytically active product with electrophoretic mobility near C4B2 and was designated C4B 22. It segregated with C4B1 in the family studied. The complete haplotype was HLA-A11, CW1, BW56, DR5, BFS, C2C, C4A3, C4B22, C4B1, GLO2. In another family with 12 siblings, one parent and eight children expressed two C4A alleles on the haplotype HLA-AW30, BW38, DR1, BFF, C2C, C4A3, C4A2, C4BQ0, GLO1. In a fifth family, we found a duplication of the C4A locus on the haplotype HLA-A3, CW4, BW35, DR1, BFF, C2C, C4A3, C4A2, C4BQ0, GLO2. Thus, we found duplications of C4A and C4B loci on several different haplotypes. These are postulated to have arisen by unequal crossing over between the tandemly duplicated loci of C4.
|Original language||English (US)|
|Number of pages||8|
|Journal||American Journal of Human Genetics|
|Publication status||Published - Apr 13 1984|
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