β‐Thalassaemia mutations and their linkage to β‐haplotypes in Tamil Nadu in Southern India

A study for screening of β‐thalassaemia mutations by the Amplification Refractory Mutation System (ARMS) and haplotyping by Polymerase Chain Reaction (PCR) was undertaken because there was a paucity of data in Tamil Nadu in Southern India and to initiate a comprehensive prenatal diagnosis programme. A total of 294 alleles were analysed to study the nature of the mutations, of which 146 were β‐thalassaemia alleles. Only four types of β‐thalassaemia mutations were recorded. Of these, 128 alleles were of the variant IVS‐1 nt 5 (G→C). Thirteen had the mutation codon 41/42 (del TCTT), four had the mutation codon 8/9 (insert G) and one had the 619 bp deletion at the 3′ end of the gene. The most common mutation, IVS–1 nt 5 (G→C), was strongly associated with a single haplotype although the association was not absolute. The population of Tamil Nadu in Southern India seems to be ideal for initiating a prenatal diagnosis programme based on direct detection of mutation by ARMS coupled with RFLP linkage analysis.

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