title: Screening of beta-thalassemia mutations by PCR and ASO analysis in an Italian population of mixed geographic origin.
abstract: 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 the couple in 43/50 cases; in the remaining 7 couples the defect was identified only in one subject. The PCR-ASO or-RE method is a suitable, though still complex, approach to prenatal diagnosis of beta-thalassemia in a population with heterogeneous molecular defects.
authors.affiliation: Dipartimento di Scienze Biomediche e Oncologia Umana, Università di Torino, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Alfarano
authors.forename: E
authors.initials: E
authors.lastname: Gottardi
authors.forename: A
authors.initials: A
authors.lastname: Serra
authors.forename: A
authors.initials: A
authors.lastname: Piga
authors.forename: M
authors.initials: M
authors.lastname: Mandrino
authors.forename: U
authors.initials: U
authors.lastname: Mazza
authors.forename: C
authors.initials: C
authors.lastname: Camaschella
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005240:Feasibility Studies; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D005820:Genetic Testing / Q000379:methods*; D005914:Globins / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008969:Molecular Sequence Data; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D005914:Globins