title: Prenatal diagnosis of beta thalassaemia by oligonucleotide analysis in Mediterranean populations.
abstract: We have used four oligonucleotide probes and two restriction enzymes to detect the beta thalassaemia mutation in a group of 61 couples of Italian descent who were prospective parents. We have been able to define the beta thalassaemia mutation in both parents in 47 couples and in only one parent in 12 couples. Prenatal diagnosis was accomplished successfully either by amniocyte (two) or trophoblast (26) DNA analysis in 28 couples in which the pregnancy was in progress. These results indicate that direct identification of the mutation by oligonucleotide or restriction endonuclease analysis is a practical and useful method for prenatal diagnosis of beta thalassaemia in childless couples.
authors.affiliation: Istituto di Clinica e Biologia dell'Età Evolutiva, Università degli Studi di Cagliari, Sardinia.
authors.forename: M C
authors.initials: MC
authors.lastname: Rosatelli
authors.forename: T
authors.initials: T
authors.lastname: Tuveri
authors.forename: M T
authors.initials: MT
authors.lastname: Scalas
authors.forename: A
authors.initials: A
authors.lastname: Di Tucci
authors.forename: G B
authors.initials: GB
authors.lastname: Leoni
authors.forename: M
authors.initials: M
authors.lastname: Furbetta
authors.forename: G
authors.initials: G
authors.lastname: Monni
authors.forename: A
authors.initials: A
authors.lastname: Cao
mesh_terms: D000649:Amniocentesis; D004252:DNA Mutational Analysis; D015245:Deoxyribonuclease BamHI; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013789:Thalassemia / Q000175:diagnosis* / Q000235:genetics; D014327:Trophoblasts / Q000032:analysis
chemical_list: D005819:Genetic Markers; D015245:Deoxyribonuclease BamHI