Haplotype analysis in the 57 non-mutated HSCR sporadic cases
| Haplotypes | Frequency | Informative families (n) | p Value |
|---|---|---|---|
| Because of linkage disequilibrium, only alleles at SNP-5 (G/A), SNP IVS1 (C/T), and SNP exon 2 (G/A) were considered. Top rows: haplotypes for the three SNPs (-5, IVS1, exon 2); bottom rows: haplotypes for SNPs -5 and IVS1 only. Significant results for predisposing haplotypes are in bold. | |||
| Predisposing | |||
| A-T-A | 0.36 | 28 | 9.10−6 |
| A-T-G | 0.04 | 7 | 0.06 |
| Protective | |||
| G-C-G | 0.50 | 30 | 10−6 |
| G-C-A | 0.04 | 7 | 0.01 |
| Predisposing | |||
| A-T | 0.40 | 34 | <10−6 |
| Protective | |||
| G-C | 0.53 | 35 | <10−6 |
| G-T | 0.03 | 4 | 0.31 |
| Neutral | |||
| A-C | 0.03 | 6 | 1 |