Article
Rapid detection of 21-hydroxylase deficiency mutations by allele-specific in vitro amplification and capillary zone electrophoresis.
Clinical chemistry - 1 Nov 1997
Carrera P, Barbieri A M, Ferrari M, Righetti P G, Perego M, Gelfi C
Abstract excerpt
A quick diagnosis of the classic form of 21-hydroxylase deficiency (simple virilizing and salt wasting) is of great importance, especially for prenatal diagnosis and treatment in pregnancies at risk. A method for simultaneous detection of common point mutations in the P450c21 B gene is here propo...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Benzothiazoles
- Diamines
- Electrophoresis, Capillary
- Female
- Fluorescent Dyes
- Gene Amplification
- Humans
- Lasers
- Male
- Organic Chemicals
- Point Mutation
- Polymerase Chain Reaction
- Quinolines
- Reproducibility of Results
- Sensitivity and Specificity
- Spectrometry, Fluorescence