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conferenceseries
.com
Volume 6
Journal of Cardiovascular Diseases & Diagnosis
Cardiology Care 2018
August 09-11, 2018
August 09-11, 2018 Abu Dhabi, UAE
Cardiology and Healthcare
28
th
International Conference on
Factor XII gene mutations in acute myocardial infarction patient with Factor XII defect
Fan Liu, Bing Xiao and Xiuchun Yang
Hebei Medical University, China
Statement of the Problem:
A 51-year-old man had a myocardial infarction. The patient disclosed medical history of hypertension
and coagulation Factor XII defect. Later coronary angiography showed triple vessels lesions. In the present study, the risk of
coronary artery diseases related to Factor XII gene was investigated.
Method:
Factor
κ
coagulation activity was detected by clotting test and 46C>T polymorphism was genotyped using a Restriction
Fragment Length Polymorphism (RFLP) method. Gene mutations were analyzed in patients with DNA sequencing. Expression
plasmids were constructed by site-directed mutagenesis based on the wild-type and transiently transfected into 293T cells. Factor
κ
activity of the expression products were tested in the cell lysates.
Findings:
A functional promoter polymorphism F12 46C/T (rs1801020) that results in decreased translation efficiency was
investigated and a homozygote TT was revealed. Genetic analysis of Factor XII polymorphisms displayed that a non-synonymous
mutation p.D562G and a stop coden p.W258X were disclosed in this patient with myocardial infarction. The results of the
transfection revealed that Factor antigens in cell lysates of mutant protein W258X was significantly lower.
Conclusion:
Rather than bleeding tendency, Factor XII defect may be associatedwith possible thrombotic disorders. Both p.D562G
and p.W258X mutations may contribute to the pathogenesis of acute myocardial infarction patient with Factor XII defect.
liufantrail@163.comJ Cardiovasc Dis Diagn 2018, Volume 6
DOI: 10.4172/2329-9517-C1-003