Allele frequencies of polymorphic variants of RET in 33 CCHS patients and 156 controls
| Allele frequency* | Statistics | |||||
|---|---|---|---|---|---|---|
| Exon/intron | Nucleotide change/codon position | Restriction site changed | Control population | CCHS population | Chi- square | p value |
| *Allele frequencies of the wild type allele, which is underlined in the column “Nucleotide change/codon position”. | ||||||
| †For the c.2508 polymorphism only 153 controls were tested. | ||||||
| ‡For the intron 2 ds+9 polymorphism only 114 controls were tested. | ||||||
| Exon 2 | GCG to GCA | EagI | 76.3% | 63.6% | 4.536 | 0.044 |
| c.135G/A | ||||||
| Exon 3 | GTC to GTA | MboII | 98.1% | 100% | 1.107 | 0.592 |
| c.375C/A | ||||||
| Exon 7 | GCG to GCA | BsmI | 72.4% | 60.6% | 3.656 | 0.074 |
| c.1296G/A | ||||||
| Exon 11 | GGT to AGT | BanI | 79.8% | 80.3% | 0.008 | 1.0 |
| c.2071G/A | ||||||
| Exon 13 | CTT to CTG | TaqI | 76.3% | 71.2% | 0.755 | 0.432 |
| c.2307T/G | ||||||
| Exon 14 | AGC to AGT | AluI | 96.4%† | 93.9% | 0.853 | 0.487 |
| c.2508C/T | ||||||
| Exon 15 | TCC to TCG | RsaI | 80.1% | 81.8% | 0.099 | 0.865 |
| c.2712C/G | ||||||