Table 1 Distribution of NPC1 polymorphism genotype and allelic frequency among members of the extended pedigree (N =76)
Genetic variations | Genotypes detected by direct sequencing | Allelic frequency | |||
|---|---|---|---|---|---|
c.387 T > C (p. Y129Y) | TT | TC | CC | T | C |
29 (38.2) | 39 (51.3) | 8 (10.5) | 97 (63.8) | 55 (36.2) | |
c.644A > G (p. H215R) | AA | AG | GG | A | G |
44 (57.9) | 29 (38.2) | 3 (3.9) | 117 (77.0) | 35 (23.0) | |
c.1926G > C (p. M642I) | GG | GC | CC | G | C |
4 (5.3) | 36 (47.4) | 36 (47.4) | 44 (28.9) | 108 (71.1) | |
c.2572A > G (p. I858V) | AA | AG | GG | A | G |
2 (2.7) | 65 (87.8) | 7 (9.5) | 69 (46.60) | 79 (53.4) | |
c.2793C > T (p. N931N) | CC | CT | TT | C | T |
32 (35.2) | 37 (48.7) | 7 (9.2) | 100 (65.8) | 52 (34.2) | |
c.3797G > A (p. R1266Q) | GG | GA | AA | G | A |
69 (93.2) | 5 (6.8) | 0 | 143 (96.6) | 5 (3.4) | |