Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.

Abstract excerpt

To characterize mutations in the CYP21B gene that are responsible for congenital adrenal hyperplasia (CAH), DNA samples from 91 French patients have been studied by allelic-specific oligonucleotide hybridization and Southern blot analysis. Seven sites mostly found in the CYP21A pseudogene and deletions of the functional CYP21B gene have been screened. Gene conversions involving small DNA segments accounted for...

Topics

• Adrenal Hyperplasia, Congenital
• Alleles
• Base Sequence
• Blotting, Southern
• Chromosome Deletion
• DNA
• Humans
• Molecular Sequence Data
• Mutation
• Oligonucleotide Probes
• Polymerase Chain Reaction