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Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction

✍ Scribed by David Owerbach; Martin B. Draznin; Robert J. Carpenter; Frank Greenberg

Publisher: Springer
Year: 1992
Tongue: English
Weight: 309 KB
Volume: 89
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00207055

No coin nor oath required. For personal study only.

✦ Synopsis

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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