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Prevalence of polymorphic 21-hydroxylase gene (CA21HB) mutations in salt-losing congenital adrenal hyperplasia. Biochem Biophys Res Commun 1987 Feb 13;142(3):798-804

Date

02/13/1987

Pubmed ID

3030300

DOI

10.1016/0006-291x(87)91484-7

Scopus ID

2-s2.0-0023124857 (requires institutional sign-in at Scopus site)   29 Citations

Abstract

Using genomic restriction analysis of 14 unrelated patients with salt-losing congenital adrenal hyperplasia, we identified three different CA21HB mutation patterns: no detectable restriction fragment abnormalities (16/28 haplotypes), deletion of the active CA21HB gene (9/28), and apparent conversion of the active CA21HB gene to the pseudogene CA21HA (3/28). CA21HB gene deletion was associated with HLA-Bw47 in 6 haplotypes and with absent C4B expression in 7. A variety of HLA and C4 types was associated with the other mutations. Apparent conversion of CA21HB to CA21HA was identified by the disparity between the intensity ratios for the major TaqI and BglII hybridization fragments.

Author List

Jospe N, Donohoue PA, Van Dop C, McLean RH, Bias WB, Migeon CJ

Author

Patricia Donohoue MD Emeritus Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Adrenal Hyperplasia, Congenital
DNA
DNA Restriction Enzymes
Haplotypes
Humans
Mutation
Nucleic Acid Hybridization
Polymorphism, Genetic
Steroid 21-Hydroxylase
Steroid Hydroxylases