Table 2.
Distribution of genotypes in the sample cohort
| Genotype | -200C > A | -181A > C | -168C > T | Number & proportion |
|---|---|---|---|---|
|
1 |
C/C |
A/A |
C/C |
42 (20%) |
|
2 |
C/A |
A/C |
C/C |
110 (53%) |
|
3 |
A/A |
C/C |
C/C |
34 (16%) |
|
4 |
C/A |
C/C |
C/C |
7 (3%) |
|
5 |
A/A |
A/A |
C/C |
4 (2%) |
|
6 |
C/A |
A/A |
C/C |
0 |
|
7a |
C/C |
A/C |
C/C |
9 (4.5%) |
|
7b |
C/C |
A/C |
C/T |
1 (0.5%) |
|
8 |
A/A |
A/C |
C/C |
2 (1%) |
|
9 |
C/C |
C/C |
C/C |
0 |
| n = 209 | ||||
|
WT |
C = 0.54 |
A = 0.51 |
C = 0.997 |
Allele frequency |
| MT | A = 0.46 | C = 0.49 | T = 0.002 | |
Genotypes were identified by pyrosequencing (n = 209) and confirmed by Sanger sequencing (n = 51). WT – wild type; MT – mutant.