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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adrenal Hyperplasia, Congenital / diagnosis*
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Adrenal Hyperplasia, Congenital / genetics
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Base Sequence
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Blotting, Southern
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Chorionic Villi Sampling
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Female
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Humans
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In Vitro Techniques
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Molecular Sequence Data
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Mutation / genetics
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Nucleic Acid Amplification Techniques*
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Pregnancy
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Pregnancy Trimester, First
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Prenatal Diagnosis*
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Steroid 21-Hydroxylase / genetics