Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction.
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 the steroid 21-hydroxylase (CYP21) gene. We can predict that the fetus is an unaffected carrier.
Owerbach
D
D
Department of Pediatrics, OB-GYN, Baylor College of Medicine, Houston, TX 77030.
Draznin
M B
MB
Carpenter
R J
RJ
Greenberg
F
F
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D001483:Base Sequence; D002478:Cells, Cultured; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013255:Steroid 21-Hydroxylase / Q000235:genetics
D013255:Steroid 21-Hydroxylase