Table 1.
Genotype Distributions and Allele Frequencies in Controls and NTD Triads*
| Marker | Genotype/allele | Controls | Affected Children | NTD mothers | NTD fathers |
|---|---|---|---|---|---|
| −866G/A | n = 317 | n = 158 | n = 151 | n = 151 | |
| GG | 140 (0.44) | 63 (0.40) | 64 (0.42) | 61 (0.40) | |
| GA | 133 (0.42) | 74 (0.47) | 68 (0.45) | 62 (0.41) | |
| AA | 44 (0.15) | 21 (0.13) | 19 (0.13) | 28 (0.19) | |
| G | 413 (0.65) | 200 (0.63) | 196 (0.65) | 184 (0.61) | |
| A | 227 (0.35) | 116 (0.37) | 106 (0.35) | 118 (0.39) | |
| A55V | n = 321 | n = 156 | n = 151 | n = 156 | |
| AA | 110 (0.34) | 52 (0.33) | 50 (0.33) | 52 (0.33) | |
| AV | 169 (0.53) | 82 (0.53) | 77 (0.51) | 75 (0.48) | |
| VV | 42 (0.13) | 22 (0.14) | 24 (0.16) | 29 (0.19) | |
| A | 389 (0.61) | 186 (0.60) | 177 (0.59) | 179 (0.57) | |
| V | 253 (0.39) | 126 (0.40) | 125 (0.41) | 133 (0.43) | |
| 3′UTR 45bp insertion | n = 325 | n = 159 | n = 155 | n = 157 | |
| del/del | 177 (0.54) | 85 (0.53) | 81 (0.53) | 78 (0.50) | |
| del/ins | 135 (0.42) | 64 (0.40) | 60 (0.39) | 69 (0.44) | |
| ins/ins | 13 (0.04) | 10 (0.06) | 12 (0.08) | 10 (0.06) | |
| del | 489 (0.75) | 234 (0.74) | 222 (0.73) | 225 (0.72) | |
| ins | 161 (0.25) | 84 (0.26) | 84 (0.27) | 89 (0.28) | |
*
Genotype and allele frequencies are in parenthesis. Because of rounding, not all genotype and allele frequencies sum to 1.