Table 1.
Summary of XDP CCCTCT repeat sizing and instability analyses
Sample | Repeat length (standard genotyping) | Expansion index | Small pool-PCR Southern blot Highest/lowest repeat lengths | Single molecule input small pool-PCR | |||
---|---|---|---|---|---|---|---|
Number of alleles sampled | Mean repeat length | Modal repeat length | Highest/lowest repeat lengths | ||||
17–17 Cerebellum | 55 | 1.205 | 82/31 | 121 | 60 | 56 | 101/25 |
17–17 Occipital Cortex | 54 | 2.383 | 129/36 | 211 | 55 | 54 | 100/24 |
17–17 Putamen | 54 | 1.247 | 128/30 | 147 | 55 | 54 | 71/50 |
17–17 Caudate | 54 | 1.1809 | 97/42 | 243 | 54 | 54 | 84/19 |
18–006 Occipital Cortex | 35 | 0.9524 | 149/22 | 182 | 37 | 35 | 60/26 |
19–008 Occipital Cortex | 41 | 1.305 | 77/31 | 168 | 42 | 41 | 53/21 |
19–008 Cerebellum | 41 | 1.111 | 141 | 42 | 41 | 50/26 | |
19–008 Caudate | 41 | 1.124 | 142 | 42 | 41 | 49/37 | |
19–008 Putamen | 41 | 1.061 | 164 | 42 | 41 | 47/35 |