核纤层蛋白A/C基因LMNA与扩张型心肌病的关系研究  

The Research into the relationship between the lamin A/C gene and idiopathic dilated cardiomyopathy

作　　者：何晓燕[1] 胡铂[1] 王娟[1] 张代富[1] 罗裕[1] 向娟[1] 

机构地区：[1]同济大学附属东方医院心内科,上海市200120

出　　处：《中国心血管病研究》2008年第8期567-569,共3页Chinese Journal of Cardiovascular Research

摘　　要：目的研究中国黄种汉族人特发性扩张型心肌病(IDCM)患者LMNA基因的突变情况。方法用基因测序的方法扫描50例散发扩张型心肌病患者LMNA基因的12个外显子及附近部分内含子;对照组为50名健康志愿者。结果LMNA基因存在1种突变,位于第7内含子区域,为单核苷酸多肽性(SNPs)。结论LMNA基因可能不是黄种汉族IDCM患者常见致病基因;LMNA基因存在新的SNPs。Objective To investigate whether the mutation of LMNA exists in Chinese of the Han nationality of idiopathic dilated cardiomypathy. Methods We evulated 50 unrelated probands with sporadic idiopathic dilated cardiomyopathy and 50 control subjects, to determine whether the mutation appears in 12 extrons of LMNA or introns nearby. Results We found 1 mutation which was in the seventh intron of LMNA gene, it is single nucleotide polymorphisms （SNPs）. Conclusion LMNA gene may not be the common gene which lead to IDCM in Chinese of Han nationality.

关 键 词：扩张型心肌病 LMNA基因 单核苷酸多肽性 

分 类 号：R542.2[医药卫生—心血管疾病]