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目的:探讨中国人群MEF2A基因与CAD的易感性关系。方法:对175例冠状动脉疾病(CAD)患者和228例正常对照的血标本进行PCR扩增MEF2A基因的11个外显子,然后采用SSCP方法检测外显子的突变并对扩增产物进行纯化和测序分析。结果:MEF2A基因的第11外显子存在三核苷酸(CAG)重复多态性,CAD患者和正常对照之间无统计学差异(P>0.05);另发现4例CAD患者在第11外显子存在1个CCG的缺失突变,突变率约为2.3%,而正常对照未见此突变;CAD患者和正常对照组MEF2A基因的其它外显子未发现突变。结论:中国人群MEF2A基因第11外显子存在1个CCG的缺失突变可能与冠状动脉疾病患者易感性有关。
Objective: To explore the relationship between MEF2A gene and susceptibility to CAD in Chinese population. Methods: Eleven exons of MEF2A gene were amplified by polymerase chain reaction (PCR) from 175 CAD patients and 228 healthy controls. The exon mutations were detected by SSCP and the amplified product was purified And sequencing analysis. Results: There was a trinucleotide (CAG) repeat polymorphism in exon 11 of MEF2A gene. There was no significant difference between CAD patients and normal controls (P> 0.05). Another 4 CAD patients were found in 11th There was 1 CCG deletion mutation in the exon, the mutation rate was about 2.3%, but no mutation was found in the normal control. No mutation was found in other exons of MEF2A gene in CAD patients and normal controls. Conclusion: There is a CCG deletion mutation in exon 11 of MEF2A gene in Chinese population, which may be related to the susceptibility of patients with coronary artery disease.