Table 1.
The frequencies of common STR haplotypes found among the chromosomes bearing c.516G>C, c.-23+1G>A, c.235delC in comparison with the normal chromosomes.
| Haplotypes * | Frequency of Haplotypes | x2 | p | |
|---|---|---|---|---|
| Mutant Chromosomes |
Normal Chromosomes | |||
|
Haplotypes for c.516G>C: D13S1316-D13S141-D13S175-D13S1853-D13S143 (~ 1.6 Mb) | ||||
| 269-124-105-204-125 | 0.6786 | 0.0161 | 79 | <10−14 |
| 267-124-105-204-125 | 0.2857 | 0.2979 | 0.0093 | 0.5462 |
| 269-124-105-204-129 | 0.0357 | 0 | 0.67 | 0.1842 |
| other haplotypes | 0 | 0.6860 | - | - |
|
Haplotypes for c.-23+1G>A: D13S141-D13S175-D13S1853-D13S143-D13S1275-D13S292 (~ 3.5 Mb) | ||||
| 124-105-204-125-208-209 | 0.8333 | 0.0538 | 53 | <10−8 |
| 124-105-204-125-202-211 | 0.0833 | 0.0108 | 0.66 | 0.1695 |
| 124-105-204-125-210-209 | 0.0833 | 0.0472 | 0.011 | 0.4586 |
| other haplotypes | 0 | 0.8882 | - | - |
|
Haplotypes for c.235delC: D13S1316-D13S141-D13S175-D13S1853-D13S143-D13S1275 (~ 1.7 Mb) | ||||
| 267-124-105-204-125-210 | 1.0 | 0 | 103 | <10−11 |
| other haplotypes | 0 | 1.0 | - | - |
* The most common haplotypes are shown in bold.