Table 2.
Haplotypes flanking the c.6046C>T mutation (NM_000132.3) in 24 Italian patients
Haplotype | DXS7423 | DXS1073 | STR24 | STR22 | c.6046C>T | STR13 | DXS1108 | Frequency |
---|---|---|---|---|---|---|---|---|
H1 | 189 | 128 | 190 | 206 | T | 156 | 171 | 17/24 (71%) |
H2 | 185 | 128 | 190 | 206 | T | 156 | 171 | 4/24 (17%) |
H3 | 177 | 130 | 190 | 206 | T | 156 | 171 | 1/24 (4%) |
H4 | 189 | 142 | 196 | 204 | T | 158 | 171 | 1/24 (4%) |
H5 | 181 | 144 | 194 | 204 | T | 154 | 161 | 1/24 (4%) |