Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism.

Abstract excerpt

Steroid 21-hydroxylase deficiency is a major cause of congenital adrenal hyperplasia and is caused by genetic impairment of this enzyme. Since approximately 80% of cases are caused by point mutations of the CYP21B (CYP21A2) gene, whereas the remaining 20% are due to deletion of this gene, we used the polymerase chain reaction single strand conformation polymorphism technique for rapid and accurate diagnosis of...

Topics

• Adrenal Hyperplasia, Congenital
• Alleles
• Base Sequence
• DNA Primers
• Exons
• Female
• Heterozygote
• Humans
• Introns
• Male
• Molecular Sequence Data