Beta thalassaemia mutations in Sardinians: implications for prenatal diagnosis

• Published in: Journal of medical genetics Vol. 24; no. 2; pp. 97 - 100
• Main Authors: Rosatelli, C, Leoni, G B, Tuveri, T, Scalas, M T, Di Tucci, A, Cao, A
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.02.1987; BMJ; BMJ Publishing Group LTD
• Subjects: Anemias. Hemoglobinopathies; Biological and medical sciences; Diseases of red blood cells; DNA - genetics; DNA Restriction Enzymes; Female; Hematologic and hematopoietic diseases; Heterozygote; Humans; Italy; Male; Medical sciences; Mutation; Nucleic Acid Hybridization; Pregnancy; Prenatal Diagnosis; Thalassemia - diagnosis; Thalassemia - genetics; Italy; Human; Hemoglobinopathy; Sardinia; β-Thalassemia; Europe; DNA; Italy; Diagnostic; Restriction fragment; Hemopathy; In utero
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.24.2.97

In this study we have characterised by oligonucleotide hybridisation and direct restriction endonuclease analysis the beta thalassaemia mutation in 494 Sardinian beta thalassaemia heterozygotes. The most prevalent mutation, accounting for 95.4% of the cases, was the nonsense mutation at codon 39. The remainder, in decreasing order of frequency, were a frameshift at codon 6 (2.2%), beta + IVS-1, nt 110 (0.4%), and beta + IVS-2, nt 745 (0.4%). This information allows prenatal diagnosis by DNA analysis to be made in the great majority of Sardinian couples at risk for beta thalassaemia.