Location of the gene for 21-hydroxylase deficiency

Abstract

We have studied 34 families in whom the propositus had CAH and confirm the original observation (1) that the gene responsible is closely related to the HLA loci. In one family the paternal HLA antigens were A1 B8, B37, DRW5 and the maternal antigens A3, A9, CW3, CW5 B12, B40, DRW1, DRW5. Two affected daughters had A1, A3, CW3, B8, B40, DRW1, DRW5 and A1, A3, CW3, B8, B40, DRW5. From these results we deduce the haplotypes of the family to be: father A1, B8, DRW5/A1, B37, DRW5; mother A3, CW3, B40, DRW1/A9, CW5, B12, DRW5; first daughter A1, B8, DRW5/A3, CW3, B40, DRW1; second daughter A1, B8, DRW5/A3, CW3, B40, DRW5. These findings are explicable on the basis of recombination between the B and DR loci in the mother. Earlier work (2) had located the gene responsible for 21-hydroxylase deficiency to lie between locus A and the GLO locus. CONCLUSION: The present results narrow the locus of the 21-hydroxylase deficiency gene to between the A and DR loci of the major histocompatibility region on chromosome 6.1. Dupont, B. et al. Lancet, 1977, 2, 1309.2. Levine, L.S. et al. New Engl J Med. 1978, 299, 911