Beta thalassaemia mutations in Sardinians: implications for prenatal diagnosis.
Open Access
- 1 February 1987
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 24 (2) , 97-100
- https://doi.org/10.1136/jmg.24.2.97
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.This publication has 16 references indexed in Scilit:
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