Linkage and association between HLA and 21-hydroxylase deficiency.
Open Access
- 1 October 1980
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 17 (5) , 337-341
- https://doi.org/10.1136/jmg.17.5.337
Abstract
Congenital adrenal hyperplasia because of 21-hydroxylase deficiency is closely linked to the HLA system. The lod scores in 14 informative families are presented. Apart from linkage, the 21-hydroxylase deficiency is associated with an increase of BW47 antigen and lack of B8 antigen in patients. A family with a possible recombination between the 21-hydroxylase deficiency and the HLA complex was found, thus indicating that the 21-hydroxylase gene lies outside the HLA system and is closely linked to the HLA-DR locus.This publication has 10 references indexed in Scilit:
- PRENATAL DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA (21-HYDROXYLASE DEFICIENCY) BY HLA TYPINGThe Lancet, 1979
- Tissue typing amniotic fluid cells: potential use for detection of contaminating maternal cells.Journal of Medical Genetics, 1979
- TRANSIENT HYPOXÆMIA DURING SLEEP IN CHRONIC BRONCHITIS AND EMPHYSEMAThe Lancet, 1979
- HLA AND CONGENITAL ADRENAL HYPERPLASIAThe Lancet, 1978
- HLA AND CONGENITAL ADRENAL HYPERPLASIAThe Lancet, 1978
- Maternal age and Down's syndrome.1978
- HLA and congenital adrenal hyperplasia linkage confirmed.1978
- HLA AND CONGENITAL ADRENAL HYPERPLASIA LINKAGE CONFIRMEDThe Lancet, 1978
- CLOSE GENETIC LINKAGE BETWEEN HLA AND CONGENITAL ADRENAL HYPERPLASIA (21-HYDROXYLASE DEFICIENCY)The Lancet, 1977
- The estimation oe pregnanetriol and 17-hydroxypregnanolone in urine in congenital adrenal hyperplasiaClinica Chimica Acta; International Journal of Clinical Chemistry, 1960