In Beta thalassemia, the most common gene mutation is
Ans. is 'a' i.e., Intron 1 inversion Thalassemias are autosomal recessive disorder The most common mutation causing 13 thalassemias is intron/inversion Also know: Synthesis of alpha chain is controlled by 2 gene clusters on - Chromosome 16 Synthesis of beta chain is controlled by 2 gene clusters on - Chromosome 11 Thalassemia mutations in India Multations Frequency IVS1-5 (G -->C) 48% 619 bp defection 18% IVS-1 (G T) 9% FR41/42(TCTT) 9% FR8/9 (+G) 5% Codonl5 (G --> A) 6% Others 100%
Intron 1 inversion
Intron 22
619 bp deletion
3.7 bp deletion