title: Beta thalassaemia mutations in Sardinians: implications for prenatal diagnosis.
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.
mesh_terms: D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D005260:Female; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008297:Male; D009154:Mutation; D009693:Nucleic Acid Hybridization; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D004247:DNA; D004262:DNA Restriction Enzymes