Article
Distribution and ethnic variation of â-thalassemia mutations in Nepal.
Nepal Medical College journal : NMCJ - 1 Mar 2012
Mishra A, Mukherjee A, Roy A, Singh G, Shrestha P, Singh R R, Rohil V, Baral N, Majhi S, Dash D
Abstract excerpt
This is the first study characterizing spectrum of beta-thalassemia mutations in Nepalese population. Mutations were analyzed in 22 patients using 10 sets of allele-specific primers. Five of the mutations, namely F.S 41/42 (--TCTT), IVS1 nt5 (G-->C), IVS1 nt1 (G-->T), 619 bp deletion and F.S 8/9 (+G), were found to constitute 87.82% of total alleles studied. F.S 41/42 (--TCTT) was the commonest mutation. -88...
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