Ligase chain reaction for diagnosis of familial hypertrophic cardiomyopathy

作     者：孙维东 

出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)

年 卷 期：1998年第6期

页      面：15-15页

核心收录：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

主　　题：hypertrophic cardiomyopathy familial 

摘      要：Objective To introduce the newly developed ligase chain reaction (LCR) method in the diagnosis of familial hypertrophic cardiomyopathy (FHC).Methods DNA and RNA from members of a family with patients having FHC were used to amplify β cardiac myosin heavy chain fragment by PCR. LCR was then used to detect the critical mutation in the FHC patient. Results By LCR, we screened the β cardiac myosin heavy chain genes of 19 members from one family with FHC. It is found that the mutation R249Q in the β cardiac myosin heavy chain gene was present in 10 members of the family. Clinical analysis of 10 adult patient relatives showed perfect agreement with clinical diagnosis (5 affected, and 5 not affected). In 9 other children (age, 1 to 20 years) within the family, only 2 had echocardiomyopathy. However, LCR analysis showed that 3 other children had also inherited the missense mutation and might later manifest the disease.Conclusions Our data suggest that LCR has great potential in the development of novel methods for diagnosing FHC. The detection of the diseasecausing mutation could provide important prognostic information about affected members.