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目的探讨用新型基因分析法-高分辨率熔解曲线法(high resolution melting,HRM)分析中国北方汉族人群驱动蛋白分子6(KIF6)基因Trp719Arg(rs20455)的单核苷酸多态性。方法样本来自2010至2011年心内科门诊及住院的234例非致死性心肌梗死患者(病例组)和228例非冠心病人群(对照组)。取受检者静脉血样1ml,留存于-80℃超低温冰箱。采用HRM法对rs20455位点进行基因多态性分型检测。结果对照组中rs20455位点TT、TC、CC基因型频率分别为29.5%、47.4%、23.1%;T、C等位基因频率分别为47.0%和53.0%;病例组的基因型频率是TT14.0%、TC59.7%、CC26.3%,T、C等位基因频率分别为56.0%和44.0%;病例组与对照组基因型和等位基因频率在2组间分布差异有统计学意义(P均<0.05)。结论成功利用HRM对中国北方非致死性心肌梗死患者和非冠心病人群的KIF6Trp719Arg位点进行了基因分型,并发现其在心肌梗死患者和非冠心病人群中分布差异有统计学意义,提示rs20455可能是中国北方汉族人群中非致死性心肌梗死筛查的生物学标记物之一。
Objective To investigate the single nucleotide polymorphisms of Trp719Arg (rs20455) in KIF6 gene of Chinese Han population in northern China using high-resolution melting (HRM) method. METHODS: Samples from 234 to non-fatal myocardial infarctions (case group) and 228 non-CHD patients (control group) were included in the cardiology outpatient and inpatient department from 2010 to 2011. Take the subjects venous blood 1ml, kept in -80 ℃ ultra-low temperature refrigerator. The rs20455 locus was genotyped by HRM. Results The frequencies of TT, TC and CC genotypes in rs20455 locus were 29.5%, 47.4% and 23.1% respectively in the control group. The frequencies of T and C alleles were 47.0% and 53.0%, respectively. The genotype frequencies of cases were TT14. 0%, TC59.7%, CC26.3%, T, C allele frequencies were 56.0% and 44.0%, respectively. The frequencies of genotype and allele in case group and control group were statistically different between the two groups (P <0.05). Conclusion The successful use of HRM to genotype the KIF6Trp719Arg locus in non-fatal myocardial infarction patients and non-coronary heart disease patients in northern China and found that the distribution of KIF6Trp719Arg in patients with myocardial infarction and non-coronary heart disease was statistically significant, suggesting that rs20455 It may be one of the biomarkers for non-fatal myocardial infarction screening in the Han Chinese population in northern China.