A Multiplex Approach to the Molecular Diagnosis of β-Thalassemia
✍ Scribed by Sabath, Daniel E.; Greisman, Harvey A.
- Book ID
- 122003787
- Publisher
- American Society for Investigative Pathology
- Year
- 2011
- Tongue
- English
- Weight
- 87 KB
- Volume
- 13
- Category
- Article
- ISSN
- 1525-1578
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
This paper reports our experience of molecular screening and fetal diagnosis of beta-thalassemia in 457 at risk couples of Italian descent. Molecular screening was carried out by dot blot analysis on amplified DNA with oligonucleotide probes complementary to the eight most common mutations in Italia
By using oligonucleotide hybridization, restriction endonuclease analysis and direct sequencing of amplified genomic DNA, we have been able to characterize 18 different mutations in the beta-globin genes of 161 beta-thalassemia homozygotes and 107 beta-thalassemia heterozygotes from Turkey (429 beta