Beta thalassaemia in the indigenous British population.
We have analysed the molecular basis of beta-thalassaemia in 22 Anglo-Saxon individuals, all of whom were heterozygous for beta-thalassaemia except for one, who was a compound heterozygote. Using a combination of allele-specific priming of the polymerase chain reaction (PCR) and direct sequencing of genomic DNA amplified by the PCR, 20/23 beta-thalassaemic genes were characterized. Nine different mutations were identified; four are commonly found in the Mediterranean, one in Asia, one has been described previously in both Europe and Asia, and three are rare mutations associated with a dominant beta-thalassaemia phenotype. In three individuals the mutation remains uncharacterized despite sequence analysis of the beta-globin gene and its immediate flanking regions. We report our findings and discuss the diversity of these mutations.
Hall
G W
GW
MRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford.
Barnetson
R A
RA
Thein
S L
SL
D001483:Base Sequence; D003062:Codon; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D006113:United Kingdom; D017086:beta-Thalassemia / Q000208:ethnology* / Q000235:genetics*
D003062:Codon; D005914:Globins