半胱氨酸蛋白酶抑制剂C基因G 73A位点的多态性与急性心肌梗死关系的探讨  

A study of the relationship between the polymorphism of cystatin C gene G73A point and acute myocardial infarction

作　　者：黄金保[1] 黄铁生[1] 王细宏[1] 

机构地区：[1]池州市人民医院,安徽池州247000

出　　处：《检验医学》2010年第7期557-559,共3页Laboratory Medicine

摘　　要：目的探讨半胱氨酸蛋白酶抑制剂C(Cys C)基因外显子+73G/A(简称G73A)位点变异与急性心肌梗死(AMI)的关系;同时观察池州地区汉族AMI患者血浆Cys C浓度的变化。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法分析112例AMI患者和110名健康对照者全血DNA中Cys C基因G73A位点变异的多态性分布情况,同时检测AMI组和对照组血浆Cys C浓度。结果AMI患者血浆Cys C浓度明显低于对照组(P<0.05)。在AMI患者组中,G73A位点GG/GA/AA基因型频率分别为64.3%、28.6%和7.1%,G等位基因频率为78.6%;对照组G73A位点GG/GA/AA基因型频率分别为67.3%、28.3%和4.5%,G等位基因频率为81.4%,2组比较差异无统计学意义(P>0.05)。结论Cys C水平的降低可能是AMI发病的危险因素之一;池州地区汉族AMI患者和正常人群中存在Cys C基因G73A位点变异的多态性,这个位点发生变异可能对AMI疾病的的发生不起主要作用。Objective To investigate the correlation between the point mutation of cystatin C（Cys C） gene exon＋73G/A（G73A） and acute myocardial infarction（AMI）,and observe the plasma levels of Cys C in Chinese Han patients with AMI at Chizou.Methods 112 patients with AMI and 110 control subjects were enrolled in this study and their polymorphism distribution of Cys C gene G73A point mutation were determined in whole blood DNA by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）assay.Plasma levels of Cys C were determined in patients with AMI and control subjects.Results The concentration of Cys C in the plasma of the patients with AMI was significantly lower than that in control subjects（P〈0.05）.To G73A gene point,the genotype frequencies of GG,GA and AA were 64.3%,28.6% and 7.1% in patients with AMI and 67.3%,28.3% and 4.5% in control subjects.The G allele frequency was 78.6% in patients with AMI and 81.4% in control subjects.There was no statistical difference in genotype and allele frequency between the patients with AMI and control subjects（P〉0.05）.Conclusions The decreased Cys C level is a possible dangerous factor to AMI.The point mutation of Cys C gene G73A showes polymorphism distribution in Chinese Han patients with AMI and healthy subjects at Chizhou.The mutation may not play a major role in AMI disease.

关 键 词：半胱氨酸蛋白酶抑制剂C 基因 急性心肌梗死 变异 聚合酶链反应-限制性片段长度多态性 多态现象 

分 类 号：R446.1[医药卫生—诊断学]