Analysis of steroid 21-hydroxylase gene mutations in the Spanish population.

Abstract excerpt

Steroid 21-hydroxylase deficiency is the major cause of congenital adrenal hyperplasia. Genotyping for deletions and nine point mutations in the CYP21 gene has been performed in 38 Spanish patients and their relatives by Southern blot analysis and allele-specific oligonucleotide hybridization. Three clinical variants were included in this study, viz., salt-wasting (SW, 21 patients), simple virilizer (SV, two...

Topics

• Adrenal Hyperplasia, Congenital
• Base Sequence
• Blotting, Southern
• Female
• Gene Conversion
• Humans
• Male
• Molecular Sequence Data
• Mutation
• Point Mutation
• Polymerase Chain Reaction
• Sequence Deletion