Official Journal of the Human Genome Organisation
Table 3 Less common β-thalassaemia mutations reported in the population of India
Mutation | State or community of origin | Reference |
|---|---|---|
-87(C>G) | Uttar Pradesh | Agarwal et al. (2006) |
IVSII-591(T>C) | Uttar Pradesh | Agarwal et al. (2000a) |
Codon 8(A>G) | Uttar Pradesh | Agarwal et al. (1999) |
Codon 13(C>T) | Uttar Pradesh | Agarwal et al. (2000a) |
Codon 27/28(−C) | Uttar Pradesh | Agarwal et al. (2000a) |
Codon 5(C>T) | Uttar Pradesh | |
Codon 4(T>A) | Uttar Pradesh | |
Codon 57/58(+C) | Sikh | el-Kalla and Matthews (1995) |
Codon 26(G>T) | Maharashtra, Karnataka | |
IVSII-745(C>G) | Tamil Nadu | Colah et al. (2009) |
IVSI-5(G>T) | Sindhi | Sheth et al. (2008) |
Cd88(+T) | Not specified | Varawalla et al. (1991b) |