Table 2.
Genotype Frequencies of RNASEL Sequence Variants in Controls, Patients with Unselected PRCA, and Patients with HPC
|
No./Total (Frequency) in |
|||
| Patients with |
|||
| Variant and Genotype | Controls | PRCA | HPC |
| E265Xa: | |||
| G | 556/566 (98.2%) | 482/492 (98.0%) | 111/116 (95.7%) |
| GT | 10/566 (1.8%) | 10/492 (2.0%) | 5/116 (4.3%) |
| S406F: | |||
| C | 173/176 (98.3%) | 160/167 (95.8%) | 63/66 (95.5%) |
| CT | 3/176 (1.7%) | 7/167 (4.2%) | 3/66 (4.5%) |
| R462Q: | |||
| G | 69/176 (39.2%) | 60/167 (35.9%) | 28/66 (42.4%) |
| GA | 84/176 (47.7%) | 83/167 (49.7%) | 23/66 (34.8%) |
| A | 23/176 (13.1%) | 24/167 (14.4%) | 15/66 (22.7%) |
| D541E: | |||
| T | 29/176 (16.5%) | 21/167 (12.6%) | 8/66 (12.1%) |
| TG | 91/176 (51.7%) | 94/167 (56.3%) | 32/66 (48.5%) |
| G | 56/176 (31.8%) | 52/167 (31.1%) | 26/66 (39.4%) |
a
Because of the complete linkage disequilibrium, frequencies for G59S are the same as those for E265X.