Table 3.
Numbers of chromosomes with each of ten haplotypes found in the 1000 Genomes Database (Indian subcontinent populations) and this study
| Orissa | Gond | Mahidol | Mediterranean | Coimbra | Kerala-Kalyan | C1311T | IVSXI C93T | BEB | GIH | ITU | PJL | STU | This study |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C | G | G | C | C | G | C | C | 2 | 7 | 5 | 5 | 6 | 0 |
| C | G | G | C | C | G | T | C | 69 | 50 | 51 | 56 | 47 | 50 |
| C | G | G | C | C | G | C | T | 56 | 92 | 86 | 82 | 90 | 54 |
| G | G | G | C | C | G | T | C | 1 | 1 (Case 1)a | ||||
| C | C | G | C | C | G | C | T | 1 | 1 | 3 | |||
| C | C | G | C | C | G | T | C | 1 | |||||
| C | G | A | C | C | G | C | T | 1 (HC) | |||||
| C | G | G | T | C | G | C | T | 2 | 1 | ||||
| C | G | G | C | T | G | C | T | 1 | |||||
| C | G | G | C | C | A | C | T | 1 | 2 | 2 | 2 | 1 | 1 (Case 3) |
Mutant alleles are shown in bold letters
BEB Bengali from Bangladesh, GIH Gujarati Indian from Houston, ITU Indian Telugu from UK, PJL Punjabi from Lahore, STU Sri Lankan Tamil from the UK
aIn one patient with heterozygous Orissa mutation (Case 2) the haplotype could not be determined due to compound heterozygosity at both the marker polymorphisms C1311T and IVSXI C93T