21-hydroxylase deficiency families with HLA identical affected and unaffected sibs.
Open Access
- 1 January 1989
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 26 (1), 10-17
- https://doi.org/10.1136/jmg.26.1.10
Abstract
During our investigations of polymorphisms at, and in the immediate chromosomal vicinity of, the 21-hydroxylase locus in families with 21-hydroxylase deficiency, three families were found to show marked discordance in clinical features of HLA identical subjects. In one family, there is discordance between a boy with the simple virilising form of 21-hydroxylase deficiency and his two younger sisters, who are both HLA identical to their brother, but who have additional salt wasting features. In the other two families, one subject is severely affected and has very high 17-hydroxyprogesterone levels, but has an HLA identical sib who is asymptomatic and shows only slightly raised 17-hydroxyprogesterone levels. In all cases, HLA identity, as indicated by protein polymorphism studies (HLA-A, B, DR, C4A, C4B, and Bf typing), has been verified at the gene organisation level using 21-hydroxylase and complement C4 DNA probes. An HLA-Bw47 bearing haplotype in one of the latter families has not been transmitted to the affected child and appears to carry a normal 21-OHB allele and two genes which specify C4A allotypes.This publication has 37 references indexed in Scilit:
- PRENATAL DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIAThe Lancet, 1987
- Molecular and clinical advances in congenital adrenal hyperplasiaThe Journal of Pediatrics, 1987
- Congenital Adrenal HyperplasiaNew England Journal of Medicine, 1987
- Congenital Adrenal HyperplasiaNew England Journal of Medicine, 1987
- Prevalence of polymorphic 21-hydroxylase gene (Ca21HB) mutations in salt-losing congenital adrenal hyperplasiaBiochemical and Biophysical Research Communications, 1987
- Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia.Journal of Medical Genetics, 1986
- IS SALT-WASTING IN CONGENITAL ADRENAL HYPERPLASIA DUE TO THE SAME GENE AS THE FASCICULATA DEFECT?Clinical Endocrinology, 1986
- Linkage and association between HLA and 21-hydroxylase deficiency.Journal of Medical Genetics, 1980
- Detection of specific sequences among DNA fragments separated by gel electrophoresisJournal of Molecular Biology, 1975
- Genetic polymorphism of the third component of human complement (C′3)JCI Insight, 1968