Abstract |
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.
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Authors | D Owerbach, M B Draznin, R J Carpenter, F Greenberg |
Journal | Human genetics
(Hum Genet)
Vol. 89
Issue 1
Pg. 109-10
(Apr 1992)
ISSN: 0340-6717 [Print] Germany |
PMID | 1349559
(Publication Type: Journal Article)
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Chemical References |
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Topics |
- Adrenal Hyperplasia, Congenital
(diagnosis, enzymology, genetics)
- Base Sequence
- Cells, Cultured
- Female
- Fetal Diseases
(diagnosis, enzymology, genetics)
- Humans
- Molecular Sequence Data
- Mutation
(genetics)
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Pregnancy
- Prenatal Diagnosis
- Steroid 21-Hydroxylase
(genetics)
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