CAJ | 학술논문

目的建立一种经济的用于脆性X综合征临床大面积筛查的简便的检测方法.方法同时用加入betaine作为PCR增强剂的扩增体系和用PfxAmpTaq酶Enhance扩增体系检测脆性X综合征(FraX)FMR-1基因,检测(CGG)n重复数的多少,对脆性X综合征可疑病人进行筛查.结果扩增目的片段为237～372bp,样本未见扩增片段的为脆性X综合征患者.样本可见明显扩增片段的为正常人.在不明原因的智力低下的儿童中筛查出3例脆性X综合征患者.两种方法对FMR-1基因的CGG重复序列扩增效果均较好.结论用加入betaine扩增体系更经济可应用于临床大批量的标本筛查.
목적 건립일충경제적용우취성X종합정림상대면적사사적간편적검측방법.방법 동시용가입betaine작위PCR증강제적확증체계화용PfxAmpTaq매Enhance확증체계검측취성X종합정(FraX)FMR-1기인,검측(CGG)n중복수적다소,대취성X종합정가의병인진행사사.결과 확증목적 편단위237～372bp,양본미견확증편단적위취성X종합정환자.양본가견명현확증편단적위정상인.재불명원인적지력저하적인동중사사출3례취성X종합정환자.량충방법대FMR-1기인적CGG중복서렬확증효과균교호.결론 용가입betaine확증체계경경제가응용우림상대비량적표본사사.
Objective To establish a simple and economical method to diagnose fragile X syndrome (FraX) by analyzing the FMR-1 gene mutation. Methods On the basis of PCR, the crowd with normal phenotype was screened and detected by PfxAmpTaq enzyme and betaine at the same time. Results 3 case of FraX were found among the hypophrenia children induced by unknown reasons. Improved PCR condition could increase the efficiency of amplification FMR-1 gene. Conclusion It is a more economical method to use amplification added with betaine to test FraX.