Table 3.
The geographic distribution of the most common LDLR mutations of FH in China
| DNA change | Mutation | Number | Geographic distribution (number) | |||||
|---|---|---|---|---|---|---|---|---|
| Northeast China | North China | Northwest China | Eastern China | Southern China | Southwest China | |||
| c.1448G > A | p.W483X | 9 | 0 | 3 | 0 | 2 | 3 | 1 |
| c.1879G > A | p.A627T | 7 | 2 | 2 | 0 | 2 | 1 | 0 |
| c.769C > T | p.R257W | 5 | 1 | 3 | 1 | 0 | 0 | 0 |
| c.1765G > A | p.D589N | 5 | 1 | 3 | 1 | 0 | 0 | 0 |
| c.1187-10G > A | 4 | 1 | 0 | 0 | 3 | 0 | 0 | |
| c.1747C > T | p.H583Y | 4 | 2 | 1 | 0 | 0 | 1 | 0 |
| c.1864G > T | p.D622Y | 4 | 0 | 3 | 1 | 0 | 0 | 0 |
LDLR low-density lipoprotein receptor, FH familial hypercholesterolemia