Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Abstract excerpt

Genotyping for 10 mutations in the CYP21 gene was performed in 88 families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Southern blot analysis was used to detect CYP21 deletions or large gene conversions, and allele-specific hybridizations were performed with DNA amplified by the polymerase chain reaction to detect smaller mutations. Mutations were detected on 95% of chromosomes examined....

Topics

• Adrenal Hyperplasia, Congenital
• Alleles
• Base Sequence
• Chromosome Deletion
• Gene Frequency
• Humans
• Molecular Sequence Data
• Mutation
• Oligodeoxyribonucleotides
• Oligonucleotide Probes