凝血酶原基因G20210A突变检测对肺血栓栓塞症的预测价值

Predictive value of prothrombin G20210 Amutation detection in pulmonary thromboembolism

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 study the incidence frequency of prothrombin G20210A （FⅡ G20210A）mutation in the patients with pulmonary thromboembolism（PTE）in northeast China,and to clarify the predictive value of FⅡG20210A mutation detection in PTE of the population in northeast China.Methods 60 PTE patients（PTE group） and 80 sex-matched healthy controls（control group）from the same geographic area were selected.All the patients were diagnosed by lung ventilation/perfusion scan and/or multi-slice CT pulmonary angiography（CTPA）as well as medical history.The genome DNA was extracted from the whole blood using alcohol.Polymerase chain reaction （PCR）,restriction fragment length polymorphisms（RFLP）analysis with HindⅢ restriction enzyme and sepharose gel electrophoresis were used to identify the F Ⅱ G20210A mutation in PTE group and control group. Results After digested by HindⅢ restriction enzyme,only the fragments of 407 and 99 bp were found in PTE group.The frequency of FⅡ G20210A mutation was 0%,there was no statistical difference compared with contol group（P＆gt;0.05）.There were no heterozygote and homozygote mutation of FⅡ G202210A gene in PTE group and control group.Conclusion The incidence of FⅡ G20210A mutation in the PTE patients in northeast China is very low,and the detection of FⅡ G20210A mutation may have no predictive value in PTE of the population in northeast China.