Results of sequencing and haplotype analysis in 13 patients from seven SCA2 families
Family | Case | Relation to other cases | Repeat size | Config of poly | D12S84 | D12S105 | D12S1672 | D12S1333 | D12S354 | D12S79 |
---|---|---|---|---|---|---|---|---|---|---|
A | 1 M | Father of A-2 | 37, 37 | Normal | 10 | 2 | 4 | 7 | 3 | 8 |
2 F | Proband | 44 | Normal | 10 | 2 | 4 | 7 | 3 | 8 | |
B | 1 F | Proband | 51, 53 | Normal | 8 or 10 | 1 or 2 | 2 or 3 | 2 or 6 | 6 | 2 or 3 |
C | 1 F | Proband | 43, 44, 46 | Normal | 9 or 10 | 1 or 2 | 1 or 2 | 5 or 6 | 4 or 6 | 3 or 5 |
D | 1 F | Older sister of D-2 | 37 | CCG | 8 | 2 | 2 | 2 | 1 | 5 |
2 F | Proband | 41, 42 | CCG | 8 | 2 | 2 | 2 | 1 | 5 | |
E | 1 M | Father of E-2 | 37, 37, 37 | CCG | 3 | 2 | 2 | 2 | 1 | 3 or 7 |
2 M | Proband | 44 | CCG | 3 | 2 | 2 | 2 | 1 | 3 or 7 | |
F | 1 F | Older sister of F-2 | 41 | CCGCCG | 7 | 2 | 2 | 2 | 6 | 5 |
2 M | Uncle of F-3 | 42, 42, 43 | CCGCCG | 7 | 2 | 2 | 2 | 6 | 5 | |
3 F | Proband | 51, 51 | CCGCCG | 7 | 2 | 2 | 2 | 6 | 5 | |
G | 1 F | Older sister of G-2 | 37, 38, 40 | CCGCCG | 7 | 2 | 2 | 2 or 6 | 3 or 6 | 5 |
2 M | Proband | 36 | CCGCCG | 7 | 2 | 2 | 2 or 6 | 3 or 6 | 5 |
Repeat size means the number of long CAG repeats in each subclone of the expanded alleles.
Config of poly: configuration of polymorphisms. F: female. M: male.