The implication of de novo 21-hydroxylase mutation in clinical and prenatal molecular diagnoses.

Abstract excerpt

We studied 37 unrelated families with a history of 21-hydroxylase deficiency (CYP21D) for eight common mutations and gene deletions in the 21-hydroxylase (CYP21) gene. We found de novo mutations in the CYP21 gene in two CYP21D patients. Analysis for eight common mutations in the 21-hydroxylase gene as well as large gene deletions was accomplished using polymerase chain reaction (PCR) followed by amplified created...

Topics

• Adrenal Hyperplasia, Congenital
• Child, Preschool
• Female
• Genetic Linkage
• Haplotypes
• Humans
• Introns
• Male
• Microsatellite Repeats
• Molecular Diagnostic Techniques
• Mutation