In Beta thalassemia, the most common gene mutation is:
Ans. is 'a' i.e., Intron 1 inversion The most common mutation causing a thalassemia is intronfinversionThalassemias are autosomal recessive disorder.The most common mutation causing thalassemias is intron/inversionAlso know:o Synthesis of alpha chain is controlled by 2 gene clusters on - Chromosome 16o Synthesis of beta chain is controlled by 2 gene clusters on - Chromosome 11Thalassemia mutations in IndiaMultationsFrequencyo IVS1-5(G-C)o 619 bp delectiono IVS-I (G-T)o FR41/42(TCTT)o FR8/9 (+G )o CodonlS (G-A)o Others48%18%9%9%5%6%100%
Intron 1 inversion
Intron 22
619 bp deletion
3.7 bp deletion
Blood