Answer to PhotoQuiz 34 |
Heterozygous IVS 1-5 G>C mutation in the HBB gene |
Thalassemia major is caused due to homozygous or compound heterozygous mutations in the HBB
gene. The sequence track shows a heterozygous mutation of substitution of G (guanine) by C
(cytosisne) at 5th position in intron 1 of the HBB gene. This is the most common mutation seen in
beta thalassemia patients in India. |
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Correct responses were given by: |
1. Jagadish Bhat, Goa |
2. Poonam Singh Gambhir, Lucknow |
3. G Aruna, Bengaluru |
4. Ravindra Kumar, Indore |
5. Sona B Nair, Mumbai |
6. Prashant Kumar Verma, Agra |
7. Croydon Fernandes, Bengaluru |