The Relationship Between Coagulation Factor V Leiden Mutation And Pulmonary Embolism

With the rapid development of medical health care, people gradually deepinto the understanding of pulmonary embolism (PE) and constantlyimprove the diagnostic level. So, pulmonary embolism gradually becomesa common and frequently-occurring disease. But due to the diversificationof its clinical symptom and lack of diagnostic consciousness and thelimited conditions of diagnostic technique, pulmonary embolism is still acommon but difficult to diagnose disease. The clinical misdiagnostic rate,morbidity and mortality of pulmonary embolism are higher. So we shouldraise vigilance. Furthermore，it has become a problem that movingforward a single step about the pathogenesis of pulmonary embolism,improving the level of consciousness and the diagnosis of pulmonaryembolism, having any early intervention for people at high risk of thetendency to pulmonary embolism currently. It has become a difficultproblem we should face as soon as possible. In recent years, manyscholars have researched the pagthogenesis of pulmonary embolism,especially in molecular level, and they put forward that pulmonaryembolism is a kind of polygenic and multifactor diseases, which are dueto genetic and/or environmental abnormalities. Among many factors, thecoagulation factor V Leiden mutation is one of the important risk factorsfor pulmonary embolism, and has become a hot spot in the study ofthrombotic diseases. In European and American countries, studies aboutthe coagulation factor V Leiden mutation have shown that the coagulationfactor V Leiden mutation is the most common cause of inheritedthrombophilia[1-3]. But there is no large-scale epidemiological investigation data about the relationship between coagulation factor VLeiden mutation and pulmonary embolism. The current findings suggestthat the coagulation factor V Leiden mutation has no correlation withpulmonary embolism. Now in this paper, we experiment on thecoagulation factor V Leiden mutation in patients with pulmonaryembolism by using PCR and Hind Ⅲ enzyme technique, in order tounderstand the condition of coagulation factor V Leiden mutation inpulmonary embolism, further to explore the relationship betweencoagulation factor V Leiden mutation and the pulmonary embolism.Objective: Understanding the condition of coagulation factor VLeiden mutation in pulmonary embolism, further to explore therelationship between coagulation factor V Leiden mutation andpulmonary embolism.Methods: We selected41patients with pulmonary embolismdiagnosed according to lung ventilation/perfusion phenomenon orpulmonary artery angiography examination as well as clinical data inChina-Japan Union Hospital of Jilin University from March2012toFebruary2013and80healthy people as control group.2ml of peripheralvenous blood collected in EDTA was used to extract DNA. The detectionof the coagulation factor V gene was based on examination of the size ofthe PCR products following DNA amplification of the coagulation factorV fragments, which would expand product to confirm the PCRamplification fragment for the target sequence of the factor V gene withagarose gel electrophoresis. The target sequence of the factor V gene wasdone by cutting experiments with Hind Ⅲ enzyme, and the enzymeproducts were obtained by agarose gel electrophoresis and then theproducts were studied in photographic analysis by gel imaging analysissystem. Results:1. PCR amplification results: the size of the PCR amplificationproduct for factor V gene in the patients group and control group was241bp.2. Hind Ⅲ restriction enzyme digestion results: the PCRamplification product for factor V gene in the patients group and controlgroup was done by cutting experiments with Hind Ⅲ restriction enzyme,and the enzyme products were obtained by agarose gel electrophoresis.And then the products were studied in photographic analysis by gelimaging analysis system. The results showed that the size of the fragmentwas241bp, both for the wild type, the normal alleles with G/G atnucleotide1691for factor V gene in patients group and control group, nomutation of adenine (A) at nucleotide1691was found.Conclusion: This study suggested that pulmonary embolism groupand control group with the coagulation factor V gene sequence of PCRamplification products were not seen its amplification of change, namelythe coagulation factor V gene phenotype is1691G/1691G, the mutationat nucleotide1691for Factor V gene1691did not appear. All of people inthe two groups were not found homozygous or heterozygous. Theseresults prompted the coagulation factor V Leiden mutation is different inracial and regional. In China, the factor V Leiden mutation frequency maybe very low, it may not result in a risk factor for venous thrombosis orpulmonary embolism, and is not a clinical routine screening indicators.There may be other mechanisms to promote venous thrombosis orpulmonary embolism. The relationship between coagulation factor VLeiden mutation and pulmonary embolism and the formation of genetic factors about pulmonary embolism remains to be further researched.