Linkage and segregation analysis of HLA and congenital hypoaldosteronism due to corticosterone methyl-oxydase deficiency type I and type II.
To determine the genetic relations between HLA and deficiencies of steroidogenic enzymes other than 21-hydroxylase, we investigated HLA and congenital hypoaldosteronism in two families with corticosterone methyl-oxidase type 2 (CMO2) and one family with type 1 (CMO1) deficiency, respectively. Apart from a first documentation of HLA in CMO1 deficiency, our results, combined with those reported previously, excluded close linkage of HLA and CMO2 deficiency. However, loose linkage could not be encluded and the segregation of HLA haplotypes in sibships with CMO2 deficiency deviated significantly from random segregation. We suggest that HLA and CMO2 deficiency may not be independent.
D000450:Aldosterone / Q000172:deficiency*; D019405:Cytochrome P-450 CYP11B2; D005260:Female; D008040:Genetic Linkage; D006680:HLA Antigens / Q000235:genetics*; D006684:HLA-DR Antigens; D000949:Histocompatibility Antigens Class II / Q000235:genetics*; D006801:Humans; D008297:Male; D006899:Mixed Function Oxygenases / Q000172:deficiency* / Q000235:genetics; D010375:Pedigree
D006680:HLA Antigens; D006684:HLA-DR Antigens; D000949:Histocompatibility Antigens Class II; D000450:Aldosterone; D006899:Mixed Function Oxygenases; D019405:Cytochrome P-450 CYP11B2; C033112:corticosterone methyl oxidase I; C025352:corticosterone methyl oxidase II