Table 4 |
|||||
|
Distribution of SNPs haplotypes in the patients carrying only one heterozygous mutation and in patients with two characterized mutated alleles. |
|||||
|
Haplotype |
Patients with 1 mutation (n = 48) |
Other patients (n = 74) |
P value |
||
|
|
|||||
|
Haplotype A: T-C-G-G-C-C-T-A |
54 (0.57) |
73 (0.79) |
99 (0.67) |
137 (0.93) |
1.9 10-1 |
|
|
|
|
|||
|
Haplotype B: T-T-G-G-C-C-T-A |
12 (0.13) |
23 (0.16) |
6.2 10-1 |
||
|
|
|
|
|||
|
Haplotype C: T-C-G-G-T-C-T-A |
7 (0.07) |
5 (0.03) |
1.4 10-1 |
||
|
|
|
|
|||
|
Haplotype D: T-C-T-A-T-C-T-A |
1 (0.01) |
0 |
|||
|
|
|
|
|||
|
Haplotype F: T-C-T-A-T-C-T-A |
0 |
2 (0.02) |
|||
|
|
|
|
|||
|
Haplotype G: T-C-G-G-C-G-T-G |
0 |
2 (0.01) |
|||
|
|
|
|
|||
|
Haplotype H: C-C-T-A-T-G-T-G |
0 |
1 (0.01) |
|||
|
|
|
|
|||
|
Haplotype I: C-T-G-G-C-G-C-G |
0 |
1 (0.01) |
|||
|
|
|
|
|||
|
Haplotype J: C-T-G-G-T-C-T-A |
1 |
1 (0.01) |
|||
|
|
|
|
|||
|
Haplotype K: C-C-T-A-C-G-C-G |
0 |
2 (0.02) |
|||
|
|
|
|
|||
|
Haplotype L: T-T-G-G-T-C-T-A |
0 |
2 (0.02) |
|||
|
|
|||||
|
Haplotype E: C-C-T-A-T-G-C-G |
19 (0.20) |
19 (0.21) |
10 (0.07) |
10 (0.07) |
1.4 10-3 |
|
|
|||||
|
Total |
94 |
94 |
148 |
148 |
|
|
|
|||||
|
Haplotypes are defined by the nucleotide at the SNP locus in the following order: c.787T>C, c.793-31C>T, c.862+20G>T, c.862+51G>A, c.862+58C>T, c.863-12C>G, c.863-7T>C, c.876A>G. |
|||||
|
Fauvert et al. BMC Medical Genetics 2009 10:51 doi:10.1186/1471-2350-10-51 |
|||||