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No evidence for linkage between HLA and male pseudohermaphroditism due to 17,20-desmolase deficiency

A family is described with two siblings suffering from male pseudohermaphroditism due to 17,20-desmolase deficiency.A possible association of the gene for 17,20-desmolase with the major histocompatibility complex on the short arm of chromosome 6 was tested by segregation analysis of the HLA haplotypes in three generations of this family.HLA ABCDR typing was carried out with the Ninth International Histocompatibility Workshop serum set of over 800 different antisera.In addition,the polymorphisms of two other chromosome 6 markers,properdin factor B of the alternative complement pathway (BF) and of the enzyme glyoxalase I (GLO) were investigated.We found, that the two affected children were HLA genotypically different, and both differed by one haplotype from their healthy sister.We conclude from these results, that a close linkage between the HLA,BF, and GLO loci and the locus for 17,20-desmolase deficiency is unlikely.The lod score value reaches - 0.721 for a recombination fraction theta = 0.05.Unlike the gene for 21-hydroxylase deficiency, the gene locus for 17,20-desmolase is apparently not located in the major histocompatibility complex region on chromosome 6.