Article
The great heterogeneity of thalassemia molecular defects in Sicily.
Human genetics - 1 May 1995
Giambona A, Lo Gioco P, Marino M, Abate I, Di Marzo R, Renda M, Di Trapani F, Messana F, Siciliano S, Rigano P
Abstract excerpt
This paper reports the results of 1428 beta-thalassemia chromosomes studied in Sicily during a hemoglobinopathy control program starting in 1983. Molecular screening was performed by direct restriction enzyme analysis, allele specific oligonucleotide (ASO) hybridization, reverse dot blot analysis (RDB) and, for the rare or new mutations, by direct sequencing of polymerase chain reaction (PCR) products. Using...
Topics
- DNA
- Female
- Globins
- Humans
- Male
- Mutation
- Nucleic Acid Hybridization
- Polymerase Chain Reaction
- Prenatal Diagnosis
- Restriction Mapping
- Sicily
- beta-Thalassemia