Article
Postnatal and non-invasive prenatal detection of β-thalassemia mutations based on Taqman genotyping assays.
PloS one - 1 Jan 2017
Breveglieri Giulia, Travan Anna, D'Aversa Elisabetta, Cosenza Lucia Carmela, Pellegatti Patrizia, Guerra Giovanni, Gambari Roberto, Borgatti Monica
Abstract excerpt
The β-thalassemias are genetic disorder caused by more than 200 mutations in the β-globin gene, resulting in a total (β0) or partial (β+) deficit of the globin chain synthesis. The most frequent Mediterranean mutations for β-thalassemia are: β039, β+IVSI-110, β+IVSI-6 and β0IVSI-1. Several molecular techniques for the detection of point mutations have been developed based on the amplification of the DNA target by...
Topics
- Adult
- Female
- Genotype
- Genotyping Techniques
- Humans
- Mutation
- Pregnancy
- Prenatal Diagnosis
- beta-Globins
- beta-Thalassemia