De Novo Mutations in Ataxin-2 Gene and ALS Risk (original) (raw)
Figure 4
CAG repeat instabilities and de novo ATXN2 mutations associated with ALS in relationship with the haplotype.
A) Schematic presentation of the CAG instabilities in four transmissions (T1–T4) of SCA2 (drawn to scale). Haplotypes are indicated as H1, H2, H′1and H′2 (see explanation in the text). Red (A), represents the average for CAG instabilities in the four transmissions. All transmissions reach either ALS (27–33 CAG) or SCA2 (≥34 CAG) thresholds. B) Scheme representing the haplotype and CAG(CCG)2CCC sequence for the individuals involved in the unstable CAG transmissions. Data between brackets is inferred from the segregation analysis. D12S1332, 3: 202 bp, 4: 198 bp, 6: 190 bp, D12S1672, 4: 289 bp, D12S1333, 4: 257 bp, 6: 251 bp, 10: 239 bp.