Article
Contribution to the description of the beta-thalassemia spectrum in Tunisia and the origin of mutation diversity.
Hemoglobin - 1 Aug 2004
Chouk Imen, Daoud Béchir Ben, Mellouli Fethi, Bejaoui Mohamed, Gérard Nathalie, Dellagi Koussay, Abbes Salem
Abstract excerpt
We determined the spectrum of beta-thalassemia (thal) mutations in 118 affected unrelated patients with different forms of beta-thal. Using a combination of reverse dot-blot analysis, denaturing gradient gel electrophoresis (DGGE), polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) and direct nucleotide sequencing, we identified the largest spectrum of beta-thal mutations so far...
Topics
- Alleles
- Female
- Frameshift Mutation
- Gene Frequency
- Genetic Counseling
- Genetic Testing
- Humans
- Male
- Point Mutation
- Prenatal Diagnosis
- Tunisia