Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot

Phyllis W. Speiser, Perrin C. White, Jacob Dupont, Deguang Zhu, Arlene B. Mercado, Maria I. New

Research output: Contribution to journalArticle

49 Scopus citations

Abstract

The feasibility and accuracy of gene-specific molecular genetic diagnosis for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was studied in a group of 24 pregnancies at 25% risk of carrying an affected fetus. Chorionic villus sampling was performed at 9-10 weeks' gestation. Southern analysis and polymerase chain reaction, followed by allele-specific hybridization for a panel of nine known mutations, were performed for each family. Mutations were identified in 95% of chromosomes examined; the molecular diagnosis was accurate in 96% of infants as confirmed by postnatal examination. The most common mutation identified was an A-to-G transition at base 656 in the second intron, the result of an apparent gene conversion. In one family, there had been a de novo mutation in intron 2, which was detected in the proband, but not in the mother or in the fetus. We conclude that first trimester prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is feasible and accurate employing CYP21-specific probes.

Original languageEnglish (US)
Pages (from-to)424-428
Number of pages5
JournalHuman genetics
Volume93
Issue number4
DOIs
StatePublished - Apr 1994

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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