Haplotypes in the GCDH gene
| IVS2+63 G>C | G391G | c.1482 A>G | Haplotypes | Mutant alleles | Mutations | Normal alleles | ||||
| − | − | − | a | 40 | 43% | 19 | 48% | 30 | 42% | |
| − | − | + | b | 8 | 9% | 8 | 20% | 7 | 10% | |
| − | + | − | c | 1 | 1% | 1 | 3% | − | − | |
| + | − | − | d | − | − | − | − | 2 | 3% | |
| + | + | − | e | − | − | − | − | 2 | 3% | |
| + | − | + | f | − | − | − | − | − | − | |
| − | + | + | g | − | − | − | − | 1 | 1% | |
| + | + | + | h | 45 | 48% | 12 | 30% | 30 | 42% | |
| Total | 94 | 40* | 72 | |||||||
Haplotypes were determined from the analysis of three polymorphic markers, IVS2+63G>C, G391G, and c.1482A>G, as indicated. Shown are total numbers and relative frequencies of haplotypes among mutant alleles, individual mutations, and normal alleles. *Three mutations were associated with two different haplotypes, while no haplotype could be assigned to one mutation, explaining the total of 40.