Article
Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese.
The Journal of clinical endocrinology and metabolism - 1 Feb 2000
Lee H H, Kuo J M, Chao H T, Lee Y J, Chang J G, Tsai C H, Chung B C
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. We screened 1,000 healthy people, using a previously developed differential PCR method combined with single-strand conformation polymorphism and amplification-created restriction site methods for the carrier detection of the CYP21 gene deficiency. Our results indicated...
Topics
- Adrenal Hyperplasia, Congenital
- Asian People
- China
- Female
- Gene Frequency
- Genetic Carrier Screening
- Genetic Testing
- Humans
- Male
- Mutation
- Polymerase Chain Reaction