TABLE 13.1 Examples of human genetic diseases caused by expanding nucleotide repeats
|
|
Number of copies of repeat |
| 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 |