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  • Title: Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction.
    Author: Owerbach D, Draznin MB, Carpenter RJ, Greenberg F.
    Journal: Hum Genet; 1992 Apr; 89(1):109-10. PubMed ID: 1349559.
    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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