Rapid identification of deoxyribonucleic acid sequence differences in cytochrome P-450 21-hydroxylase (CYP21) genes with denaturing gradient gel blots.

Abstract excerpt

Denaturing gradient gel electrophoresis was used to identify single-base differences in the cytochrome P-450 21-hydroxylase (CYP21) genes of 132 unrelated control individuals and family members of three unrelated patients with 21-hydroxylase deficiency. The salt-wasting variety was caused by gene deletion and gene conversion/deletion mutations in affected members of two families studied. The simple virilizing...

Topics

• Adrenal Hyperplasia, Congenital
• Blotting, Southern
• Chromosome Deletion
• Electrophoresis, Polyacrylamide Gel
• Female
• Humans
• Male
• Mutation
• Nucleic Acid Hybridization
• Pedigree
• Polymorphism, Restriction Fragment Length