Genetic linkage and HLA association in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Hum Immunol
; 7(1): 35-44, 1983 May.
Article
in En
| MEDLINE
| ID: mdl-6602118
ABSTRACT
Twenty-eight families of patients with congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency were studied to evaluate the specific HLA linkage relationship and HLA antigen association to the 21-OH deficiency gene. Genotype assignment, based on hormonal studies (ACTH stimulation) and HLA genotyping, correlated very well (p less than 0.01) in 23 unaffected sibs of children with 21-OH deficiency further supporting the genetic linkage of the 21-OH deficiency gene to the HLA complex. One family was informative for the placement of the 21-OH deficiency gene outside the HLA complex on the HLA-DR locus side. In this family HLA-A, B, C, DR, MT, MB, and glyoxylase typing and mixed lymphocyte culture was performed. An association of 21-OH deficiency and the HLA-A3 antigen was noted in the 28 families. This association is not secondary to the association of the 21-OH deficiency gene with HLA-BW47.
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Database:
MEDLINE
Main subject:
Adrenal Hyperplasia, Congenital
/
HLA Antigens
Type of study:
Risk_factors_studies
Limits:
Female
/
Humans
/
Male
Language:
En
Journal:
Hum Immunol
Year:
1983
Type:
Article