Genotypes of patients with Smith-Lemli-Opitz syndrome and their parents
| Genotypes | Frequencies | Expected number of patients according to Hardy-Weinberg equilibrium | ||
|---|---|---|---|---|
| Absolute | Percentage | |||
| DHCR7 | 0/0 | 6 | 4.3 | − |
| 4L/4L | 5 | 3.5 | − | |
| 0/4L | 14 | 9.9 | − | |
| 4L/TM | 3 | 2.1 | − | |
| 0/TM | 77 | 54.6 | − | |
| TM/TM | 17 | 12.1 | − | |
| TM/CT | 13 | 9.9 | − | |
| CT/CT | 2 | 1.4 | − | |
| sum | 134 | 100 | − | |
| Apo E patients | E2/E2 | 0 | 0 | 0.543 |
| E2/E3 | 17 | 12.1 | 13.5 | |
| E3/E3 | 83 | 58.9 | 84.5 | |
| E3/E4 | 29 | 20.6 | 29.5 | |
| E4/E4 | 4 | 2.8 | 2.57 | |
| sum | 133 | |||
| Apo E mothers | E2/E2 | 1 | 1.7 | 0.51 |
| E2/E3 | 9 | 15.3 | 8.57 | |
| E3/E3 | 35 | 59.3 | 35.8 | |
| E3/E4 | 13 | 22 | 11.6 | |
| E4/E4 | 1 | 1.7 | 0.953 | |
| sum | 59 | |||
| Apo E fathers | E2/E2 | 0 | 0 | 0.127 |
| E2/E3 | 5 | 10.2 | 4.29 | |
| E3/E3 | 36 | 73.5 | 36.24 | |
| E3/E4 | 7 | 14.3 | 7.58 | |
| E4/E4 | 1 | 2 | 0.39 | |
| sum | 49 | |||
| LDL receptor SNPID: rs5930 R471 mothers | G/A | 15 | 27.8 | |
| G/G | 32 | 59.3 | ||
| A/A | 7 | 13 | ||
| sum | 54 | |||
| LDL receptor SNPID: rs5930 R471 patients | G/A | 45 | 35.7 | |
| G/G | 60 | 47.6 | ||
| A/A | 21 | 16.7 | ||
| sum | 126 | |||