Article
Screening of beta-thalassemia mutations by PCR and ASO analysis in an Italian population of mixed geographic origin.
Haematologica - 1 Jan 2000
Alfarano A, Gottardi E, Serra A, Piga A, Mandrino M, Mazza U, Camaschella C
Abstract excerpt
We used the polymerase chain reaction (PCR) and allele-specific-oligonucleotide hybridization (ASO) or restriction enzyme analysis (RE) to investigate the molecular defect in 100 Italian subjects heterozygous for beta-thalassemia, members of 50 couples at risk for the disease: 93 out of the 100 alleles studied were identified after investigating 9 known mutations. The mutation was identified in both members of...
Topics
- Alleles
- Base Sequence
- DNA Mutational Analysis
- Feasibility Studies
- Female
- Fetal Diseases
- Genetic Testing
- Globins
- Heterozygote
- Humans
- Italy
- Male