Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.

doi:10.1136/jmg.33.5.371

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Article

Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.

Journal of medical genetics - 1 May 1996

Lee H H, Chao H T, Ng H T, Choo K B

Abstract excerpt

The majority of congenital adrenal hyperplasia (CAH) cases arise from mutations in the steroid 21-hydroxylase (CYP21) gene. Without reliance on HLA gene linkage analysis, we have developed primers for differential polymerase chain reaction (PCR) amplification of the CYP21 gene and the non-functio...

Topics

Adrenal Hyperplasia, Congenital
Base Sequence
DNA Mutational Analysis
DNA Primers
Humans
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Steroid 21-Hydroxylase

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