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目的:探讨凝血酶原基因G20210A(FⅡG20210A)突变在中国东北地区肺血栓栓塞症(PTE)患者中的发生频率,阐明检测该突变基因对中国东北地区人群PTE的预测价值。方法:选择经核素肺灌注显像和(或)螺旋CT肺动脉造影(CTPA)结合临床症状确诊的PTE患者60例(病例组)和同期来自相同地区、性别和年龄相匹配的正常健康人80名(对照组)。应用蛋白酶消化及乙醇抽提获得2组研究对象的DNA。采用聚合酶链式反应(PCR)、HindⅢ限制性内切酶片段多态性分析(RFLP)和琼脂糖凝胶电泳检测病例组和对照组研究对象FⅡG20210A基因突变情况。结果:经HindⅢ酶切后,病例组仅出现407和99bp 2个条带,FⅡG20210A突变频率为0%,与对照组比较差异无统计学意义(P>0.05);病例组和对照组均未发现FⅡG20210A基因杂合子或纯合子突变。结论:FⅡG20210A基因突变在我国东北地区PTE患者中发生率低,FⅡG20210A基因突变检测可能对中国东北地区人群PTE无预测价值。
Objective: To investigate the frequency of prothrombin gene G20210A (FⅡG20210A) mutation in patients with pulmonary thromboembolism (PTE) in northeastern China, and to elucidate the predictive value of detecting this gene in PTE in northeastern China. Methods: Sixty patients with PTE confirmed by radionuclide perfusion imaging and CTPA combined with clinical symptoms and normal healthy subjects of the same age, sex and age Name (control group). The DNA of two groups of subjects was obtained by protease digestion and ethanol extraction. Polymerase chain reaction (PCR), Hind Ⅲ restriction fragment analysis (RFLP) and agarose gel electrophoresis were used to detect the mutation of FⅡG20210A in case group and control group. Results: After Hind Ⅲ digestion, there were only two bands of 407 and 99bp in the case group, and the mutation frequency of FⅡG20210A was 0%, which showed no significant difference compared with the control group (P> 0.05). No case group and control group were found F Ⅱ G20210A gene heterozygous or homozygous mutation. Conclusion: The mutation of FⅡG20210A gene is rare in PTE patients in northeastern China. The detection of F Ⅱ G20210A mutation may have no predictive value for PTE in northeastern China.