Improving the diagnostic method for the SLC25A13 gene 851del4 mutation and analysis of the common mutation frequencies in Quanzhou area

Objective To ascertain whether the carrier rate is high in Quanzhou which is next to Taiwan in South of the Yangtze River. Methods Population analysis of three SLC25A13 mutations, i.e.851de14, 1638-1660dup, and IVS6+ 5G＞A was carried out in 450 healthy individuals. DNA diagnostic method of 851de14 was improved by using PCR-restriction fragment length polymorphism(PCR-RFLP) with restriction enzyme HpyCH4 Ⅳ, and the results were confirmed by GeneScan method. Results Six carriers with 851de14, 3 with 1638-1660dup and 3 with IVS6+5G＞A was found. Conclusion The high carrier rate (0. 027,12/450) obtained from testing of only three mutations indicated that there must be a certain number of patients with citrin deficiency in Quanzhou,even in Fujian. Therefore, it is important for physicians in Quanzhou, Fujian Province to learn about citrin deficiency, and to diagnose and treat the patients correctly. Key words: citrin deficiency; polymerase chain reaction-restriction fragment length polymorphism; carrier; SLC25A13 gene