Abstract
An A-to-G transition in the second intron was the sole mutation detected in four Yupik Eskimo patients with salt-wasting congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Allele-specific hybridization should be an efficient means of performing prenatal diagnosis of the disease in this highly inbred population.
Publication types
-
Research Support, U.S. Gov't, P.H.S.
MeSH terms
-
Adrenal Hyperplasia, Congenital* / enzymology
-
Adrenal Hyperplasia, Congenital* / genetics*
-
Adrenal Hyperplasia, Congenital* / immunology
-
Female
-
Genotype
-
HLA Antigens / immunology
-
Humans
-
Inuit / genetics*
-
Male
-
Mutation
-
Oligonucleotide Probes
Substances
-
HLA Antigens
-
Oligonucleotide Probes