In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia.
basic_science · Level V
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- Record sourced from PubMed, PMID 2277381.
- Also identified by PMC identifier 1017256.
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Abstract
A simple, rapid, non-radioactive method for detecting homozygous deletions/conversions of the steroid 21-hydroxylase gene is described. In our experience this method will be useful for first trimester prenatal diagnosis of congenital adrenal hyperplasia in 17% of families of a child with the salt losing form. This test includes an internal control to monitor the success of amplification.
Medical subject headings
- Adrenal Hyperplasia, Congenital
- Nucleic Acid Amplification Techniques
- Prenatal Diagnosis