Article
Major beta-globin gene mutations in eastern India and their associated haplotypes.
Human heredity - 1 Jul 1999
Bandyopadhyay A, Bandyopadhyay S, Chowdhury M D, Dasgupta U B
Abstract excerpt
324 alleles of the beta-globin gene from unrelated thalassaemia patients native to the eastern region of India (mainly from the state of West Bengal) were analysed for beta-globin gene mutations by the amplification refractory mutation system (ARMS). The major mutations that were detected are IVS-1 pos 5 (G-C), codon 26 (G-A) and codon 30 (G-C) with frequencies of 0.45, 0.33 and 0.05, respectively. Haplotype...
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