Table 1 Demographic characteristics of the patients and genetic characteristics of the lymphoblastoid cell lines in the patients with Huntington's disease.
From: DNA instability in replicating Huntington's disease lymphoblasts
Cell lines | No. | Gender Male/Female | Mean expanded CAG ± SD (range) | Mean Age at onset ± SD (range) | Over-time Triplet variation (ΔCAG) | Mean Mosaicism degree ± SD (No. peaks) | Expansions/contractions (triplet changes in %) |
|---|---|---|---|---|---|---|---|
Lymphoblats with low mutation penetrance (36–41 CAG) | 6 | 3/3 | 40.167 ± 0.983 (39–41) | 57.250 ± 5.62 (50–63) | 0.167 ± O.408 (0–1) | 6.333 ± 1.966a (5–10) | 1/0 (1/6 or 17%) |
Lymphoblats with usually expanded mutation penetrance (42–59 CAG) | 43 | 22/21 | 45.628 ± 3.471 (42–54) | 40.643 ± 10.094 (21–57) | 0.628 ± 0.874 (0–3) | 7.442 ± 2.797b (3–14) | 6/11 (17/43 or 39%) |
Lymphoblasts with high mutation penetrance (60–120 CAG) | 9 | 6/3 | 80 ± 21.042 (64–120) | 12.750 ± 8.396 (3–25) | 3.429 ± 1.512 (2 ≥ 5) | 15.429 ± 11.238c (7–40) | 6/3 (9/9 or 100%)d |
Total | 58 | 31/27 | 50.397 ± 15.416 (39–120) | 37.741 ± 14.819 (3–63) | 0.929 ± 1.333 (0–5) | 8.321 ± 5.250 (3–40) | 13/14 (27/58 or 46%) |