吉林大学学报(医学版)

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凝血酶原基因G20210A突变检测对肺血栓栓塞症的预测价值

张 佳1,2,赵凤芹1,谭 平1,季 红3   

  1. 1.吉林大学中日联谊医院呼吸内科,吉林 长春 130033;2.北京航天中心医院重症医学科,北京 100049;3.吉林大学中日联谊医院药品
    管理部,吉林 长春 130033
  • 收稿日期:2013-12-16 出版日期:2014-09-28 发布日期:2014-11-24
  • 通讯作者: 赵凤芹(Tel:0431-84995860,E-mail:cczfq@163.com); 季 红(Tel:0431-84995145,E-mail:1215834671@qq.com) E-mail:E-mail:cczfq@163.com;E-mail:1215834671@qq.com
  • 作者简介:张 佳(1988-),女,河南省开封市人,医学硕士,主要从事重症医学方面的研究。
  • 基金资助:

    吉林省科技厅科研基金资助课题(201115092)

Predictive value of prothrombin G20210A mutation detection  in pulmonary thromboembolism

ZHANG Jia1,2,,ZHAO Feng-qin1,TAN Ping1,JI Hong3   

  1. 1.Department of Respiratory Medicine,China-Japan Union Hospital,Jilin University,Changchun 130033,China;2.Department of Intensive Care Unit,Aerospace Center Hospital,Beijing 100049,China;3.Department of Drug Administration,China-Japan Union Hospital,Jilin Uninversity, Changch
    un 130033,China
  • Received:2013-12-16 Online:2014-09-28 Published:2014-11-24

摘要:

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99 bp 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:FⅡ G20210A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。

关键词:  , 肺血栓栓塞症;G20210A基因;凝血酶原

Abstract:

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 thepredictive value of FⅡ G20210A 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 FⅡ 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>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.

Key words: pulmonary thromboembolism, G20210A gene, prothrombin

中图分类号: 

  • R563.5