Article
Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes.
Clinical chemistry - 1 May 2003
Vrettou Christina, Traeger-Synodinos Joanne, Tzetis Maria, Malamis George, Kanavakis Emmanuel
Abstract excerpt
BACKGROUND: Hemoglobinopathies are priority genetic diseases for prevention programs. Rapid genotype characterization is fundamental in the diagnostic laboratory, especially when offering prenatal diagnosis for carrier couples. METHODS: As a model, we designed a protocol based on the LightCycler...
Topics
- DNA Mutational Analysis
- Genetic Testing
- Genotype
- Globins
- Heterozygote
- Humans
- Mutation
- Polymerase Chain Reaction
- Prenatal Diagnosis
- beta-Thalassemia