Table 2. Distribution of the 4 prevalent SLC25A13 mutations in different areas of Shaanxi Province.
Regions | Cities | I | III | X | XIX | Sample sizes | Mutated alleles | Carrier frequencies | Morbidity rates |
---|---|---|---|---|---|---|---|---|---|
North | Yulin | 2 | 1 | 293 | 3 | 1/98 | 1/38,155 | ||
Yan’an | 1 | 1 | 2 | 300 | 4 | 1/76 | 1/22,500 | ||
Total | 3 | 2 | 2 | 593 | 7 | 1/85 | 1/28,706 | ||
Center | Weinan | 3 | 1 | 500 | 4 | 1/126 | 1/62,500 | ||
Xi’an | 2† | 1 | 1 | 174 | 4 | 1/44 | 1/7,569 | ||
Xianyang | 1 | 1 | 300 | 2 | 1/151 | 1/90,000 | |||
Tongchuan | 1 | 100 | 1 | 1/101 | 1/40,000 | ||||
Baoji | 1 | 1 | 300 | 2 | 1/151 | 1/90,000 | |||
Total | 7 | 2 | 1 | 3 | 1,374 | 13 | 1/106 | 1/44,683 | |
South | Shangluo | 1 | 229 | 1 | 1/230 | 1/209,764 | |||
Hanzhong | 1 | 1 | 1 | 2 | 350 | 5 | 1/71 | 1/19,600 | |
Ankang | 2 | 1 | 200 | 3 | 1/67 | 1/17,778 | |||
Total | 3 | 1 | 1 | 4 | 779 | 9 | 1/87 | 1/29,967 | |
In total | 13 | 5 | 2 | 9 | 2,746 | 29 | 1/95 | 1/35,865 |
I: c.852_855del; III: c.1638_1660dup; X: c.615+5G>A; XIX: c.1751-5_1751-4ins(2684). †: Homozygous for the c.852_855del mutation.