泉州地区SLC25A13基因常见突变携带者频率的研究及意义

目的 改良citrin缺陷病致病基因SLC25A13常见突变851del4的诊断方法,并对泉州地区该基因常见突变的人群携带率进行探讨.方法 于450名健康成人中筛查SLC25A13常见突变851del4、1638-1660dup及IVS6+5G＞A的突变携带者,应用改良SLC25A13基因常见突变851del4的诊断方法,论证本诊断方法的可行性.结果 共发现6例851del4、3例1638-1660dup及3例IVS6+5G＞A突变携带者.其总携带者频率为0.027(12/450),本研究采用的新型诊断方法筛查的851del4突变人群携带者经(eneScan方法得到确认.结论 本研究改良的诊断方法对突变85ldel4诊断明确且简单实用,泉州地区SLC25A13常见突变携带者频率略高于台湾等周边地区,在该地区应存在一定数量的citrin缺陷病患者,对于该类代谢遗传病应予重视,以免发生因误诊或延误诊治而导致的不良后果.

Improving the diagnostic method for the SLC25A13 gene 851de14 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.