扩张型心肌病与Desmin及血小板活化因子乙酰水解酶基因相关性研究  

Correlation Between Desmin Gene, Platelet-Activating Factor Acetylhydrolase Gene and Dilated Cardiomyopathy

作　　者：王斌[1] 饶莉[1] 张林[2] 周斌[2] 王宇平[1] 陈新云[1] 

机构地区：[1]四川大学华西医院心内科,成都610041 [2]四川大学华西基础医学与法医学院法医物证学教研室

出　　处：《四川大学学报（医学版）》2006年第3期391-394,共4页Journal of Sichuan University(Medical Sciences)

基　　金：四川省科技厅应用基础项目(04JY029-078-1);2003年度教育部"优秀青年教师资助计划";教育部高等学校博士学科点专项科研基金(20030610032)资助

摘　　要：目的探讨中国扩张型心肌病(dilatedcardiomyopathy,DCM)人群中是否存在Desmin基因外显子8上的一个错意突变(Ile451Met)及检测血小板活化因子乙酰水解酶(platelet-activatingfactoracetylhydrolase,PAF-AH)基因G994→T错义突变发生频率,以及它们与DCM的关系。方法通过聚合酶链反应、限制性内切酶酶切、聚丙烯酰胺凝胶电泳及银染技术,结合DNA测序分析89例DCM患者和110例对照组Desmin基因及PAF-AH基因可能突变位点(Ile451Met,Val279Phe)。结果通过上述方法检测后未能发现两组中存在Desmin基因(Ile451Met)突变,PAF-AH基因突变(Val279Phe)发生频率在病例组及对照组间的差异无统计学意义(P>0.05)。结论在小样本中国成都地区扩张型心肌病患者中,未发现Desmin基因第8外显子存在Ile451Met突变,并且与PAF-AH基因突变(Val279Phe)无明显相关。Objective To test the Missense mutation of Desmin gene （Ile451Met）, the frequency of missense mutation （G^994→T） of Platelet-Activating Factor Acetylhydrolase （PAF-AH） gene, and the correlation between these mutations and dilated cardiomyopathy （DCM） in the Chinese population with DCM. Methods A case control study was conducted with 89 DCM patients and 110 healthy people （control group） participating in the study. The exon 8 of Desmin gene and exon 9 of PAF-AH gene were identified by polymerase chain reaction, restriction enzyme digestion, polyacrylamide gel electrophoresis and DNA sequencing for described mutation site of Desmin（Ile451Met） and PAF-AH （Va1279Phe）. Results No mutation（Ile451Met） in Desmin gene was found in either the DCM patients or the healthy people. There was no significant difference in the frequency of PAF-AH gene mutation （Va1279Phe） between the patient and control groups （P〉0. 05）. Conclusion Neither the mutation of Ile451Met in gene encoding for Desmin exon 8 nor the mutation frequency of PAF-AH gene （G^994→T） has correlation with the DCM.

关 键 词：扩张型心肌病 Desmin基因 基因突变 聚合酶链反应 遗传 

分 类 号：R542.2[医药卫生—心血管疾病]