摘要
目的研究扩张型心肌病(DCM)与血管紧张素转换酶(ACE)基因多态性及β肌球蛋白重链(βMHC)基因的关系。方法选择中国医科大学附属第二医院2000-01-2002-1043例DCM病人及53例健康对照者,用PCR法检测ACE基因型,并扩增心脏βMHC基因第13、14外显子,用DdeⅠ、NIAⅢ限制性内切酶酶解βMHC基因扩增产物,分析有无8848位及9124位点突变。结果DCM组ACE基因DD型及D等位基因频率显著高于正常对照组(P<0.01),比值比分别为4.16,2.65。1例DCM病人出现βMHC基因8848位点突变应产生的394bp片段。结论ACE基因I/D多态性可能与扩张型心肌病有关,DD基N型可能是DCM发病的危险因子。βMHC基因可能是DCM遗传易感性的基因标志之一。
Objective To determine the relationship between angiotensin converting enzyme gene polymorphism and β myosin heavy chain gene and dilated cardiomyopathy (DCM) among people of Han nationality in Liaoning province. Methods The insertion/deletion (I/D) polymorphism of ACE gene was detected by the polymerase chain reaction (PCR) in 43 patients with DCM and 53 normal controls. The exons 13,14 of cardiac β-MHC gene from 43 patients and 53 controls were amplified restrictively by using PCR. The amplified products of PCR were digested by restrictive en-donuclease DdeⅠ and NlaⅢ to identify the mutations at No. 8848 and 9124 nucleotide of β-MHC gene. Results The frequency of ACE DD genotype and the frequency of the allele D was remarkably higher in individuals with DCM than those in normal control people ( P < 0.01), odds ratio was 4.16 and 2.65 respectively. One patient with DCM emerged 394bp fragment,suggesting that he might exist mutation at nucleotide 8848 of cardiacβ-MHC gene. Conclusion ACE gene I/D polymorphism may contribute to the pathogenesis of dilated cardiomyopathy. ACE DD genotype may be the risk factor for DCM. The cardiac β-MHC gene may be one of the genetic risk factors for DCM in Chinese population.
出处
《中国实用内科杂志》
CAS
CSCD
北大核心
2005年第7期595-597,共3页
Chinese Journal of Practical Internal Medicine
