Article
Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction.
Human genetics - 1 Apr 1992
Owerbach D, Draznin M B, Carpenter R J, Greenberg F
Abstract excerpt
We present an improved method for the prenatal diagnosis of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. The polymerase chain reaction (PCR) was used to analyze DNA from an affected index case, the parents, and a cultured chorionic villus sample, for point mutations in...
Topics
- Adrenal Hyperplasia, Congenital
- Base Sequence
- Cells, Cultured
- Female
- Fetal Diseases
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Pregnancy
- Prenatal Diagnosis
- Steroid 21-Hydroxylase