title: A simple electrophoretic procedure for fetal diagnosis of beta-thalassaemia due to short deletions.
abstract: This study describes three couples at risk for homozygous beta-thalassaemia in which one of the partners carried a short deletion beta-thalassaemia defect. Detection of short deletions in trophoblast DNA was accomplished by the very simple procedure of non-denaturing polyacrylamide gel electrophoresis. This method may be applied to detect beta-thalassaemia mutations due to deletion or addition of more than two nucleotides.
authors.affiliation: Istituto di Clinica e Biologia dell'Età Evolutiva, Università Studi Cagliari, Cagliari, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Faà
authors.forename: M C
authors.initials: MC
authors.lastname: Rosatelli
authors.forename: R
authors.initials: R
authors.lastname: Sardu
authors.forename: A
authors.initials: A
authors.lastname: Meloni
authors.forename: C
authors.initials: C
authors.lastname: Toffoli
authors.forename: A
authors.initials: A
authors.lastname: Cao
mesh_terms: D001483:Base Sequence; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004247:DNA / Q000302:isolation & purification; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods*; D005260:Female; D005914:Globins / Q000235:genetics; D006801:Humans; D015151:Immunoblotting; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis; D017422:Sequence Analysis, DNA; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D005914:Globins; D004247:DNA