中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2010年
6期
626-630
,共5页
高宏志%李秋兰%庄祥龙%小林圭子%牛飼美晴%佐伯武赖%胡伟鹏%周常文%林玲
高宏誌%李鞦蘭%莊祥龍%小林圭子%牛飼美晴%佐伯武賴%鬍偉鵬%週常文%林玲
고굉지%리추란%장상룡%소림규자%우사미청%좌백무뢰%호위붕%주상문%림령
citrin缺陷病%聚合酶链反应-限制性片段长度多态性%携带者%SLC25A13基因
citrin缺陷病%聚閤酶鏈反應-限製性片段長度多態性%攜帶者%SLC25A13基因
citrin결함병%취합매련반응-한제성편단장도다태성%휴대자%SLC25A13기인
citrin deficiency%polymerase chain reaction-restriction fragment length polymorphism%carrier%SLC25A13 gene
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.
目的 改良citrin缺陷病緻病基因SLC25A13常見突變851del4的診斷方法,併對泉州地區該基因常見突變的人群攜帶率進行探討.方法 于450名健康成人中篩查SLC25A13常見突變851del4、1638-1660dup及IVS6+5G＞A的突變攜帶者,應用改良SLC25A13基因常見突變851del4的診斷方法,論證本診斷方法的可行性.結果 共髮現6例851del4、3例1638-1660dup及3例IVS6+5G＞A突變攜帶者.其總攜帶者頻率為0.027(12/450),本研究採用的新型診斷方法篩查的851del4突變人群攜帶者經(eneScan方法得到確認.結論 本研究改良的診斷方法對突變85ldel4診斷明確且簡單實用,泉州地區SLC25A13常見突變攜帶者頻率略高于檯灣等週邊地區,在該地區應存在一定數量的citrin缺陷病患者,對于該類代謝遺傳病應予重視,以免髮生因誤診或延誤診治而導緻的不良後果.
목적 개량citrin결함병치병기인SLC25A13상견돌변851del4적진단방법,병대천주지구해기인상견돌변적인군휴대솔진행탐토.방법 우450명건강성인중사사SLC25A13상견돌변851del4、1638-1660dup급IVS6+5G＞A적돌변휴대자,응용개량SLC25A13기인상견돌변851del4적진단방법,론증본진단방법적가행성.결과 공발현6례851del4、3례1638-1660dup급3례IVS6+5G＞A돌변휴대자.기총휴대자빈솔위0.027(12/450),본연구채용적신형진단방법사사적851del4돌변인군휴대자경(eneScan방법득도학인.결론 본연구개량적진단방법대돌변85ldel4진단명학차간단실용,천주지구SLC25A13상견돌변휴대자빈솔략고우태만등주변지구,재해지구응존재일정수량적citrin결함병환자,대우해류대사유전병응여중시,이면발생인오진혹연오진치이도치적불량후과.
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.
