Beta thalassaemia mutations in Sardinians: implications for prenatal diagnosis. Issue 2 (February 1987)

• Record Type: Journal Article
• Authors: Rosatelli, C; Leoni, G B; Tuveri, T; Scalas, M T; Di Tucci, A; Cao, A
• Is Part Of: Journal of medical genetics. Volume 24:Issue 2(1987)
• Page Start: 97
• Page End: 100
• Publication Date: 1987-02
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.24.2.97
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : 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.