| | |
Disease |
Repeated Sequence |
Normal Range |
Disease Range |
Spinal and bulbar muscular atrophy |
CAG |
11-33 |
40-62 |
Fragile-X syndrome |
CGG |
6-54 |
50-1500 |
Jacobsen syndrome |
CGG |
11 |
100-1000 |
Spinocerebellar ataxia (several types) |
CAG |
4-44 |
21-130 |
Autosomal dominant cerebellar ataxia |
CAG |
7-19 |
37-220 |
Myotonic dystrophy |
CTG |
5-37 |
44-3000 |
Huntington disease |
CAG |
9-37 |
37-121 |
Friedreich ataxia |
GAA |
6-29 |
200-900 |
Dentatorubral-pallidoluysian atrophy |
CAG |
7-25 |
49-75 |
Myoclonus epilepsy of the Unverricht-Lundborg type |
CCCCGCCCCGCG |
2-3 |
12-13 |
Table 18.1: Examples of human genetic diseases caused by expanding nucleotide repeats