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The Study of Associativity between Mutations of Annexin A5 Gene and Dilated Cardiomyopaathy in Chinese Patients

Author: ZhuBo
Tutor: LuoXingLin
School: Luzhou Medical College
Course: Internal Medicine
Keywords: Dilated cardiomyopathy Annexin A5 mutation PCR-DHPLC DNA-sequence
CLC: R542.2
Type: Master's thesis
Year: 2011
Downloads: 3
Quote: 0
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Abstract


objective:Dilated cardiomyopathy (DCM) is a primary myocardial disease characterized by left and/or right ventricular dialation and impaired contraction of myocardium.It has highly morbility and mortality for there was not effective means to early-diagnosis and cure.Although the cause of DCM is not clear,but it has beenreports that gene mutation are associated with DCM,which provides us more evidence to develop genetic diagnosis and early cure. Annexins are a family of 13 proteins known to bind phospholipids (PL) in a Ca2+-dependent way. The 13 Annexins named as Annexins A1-A13.Annexin A5 is one of the most abundant annexins in human myocardium. Annexin A5 may be able to interact with Ca2+ handling proteins involved in Ca2 +cycling and therefore play a role in Ca2+ homeostasis. A major mechanism of both systolic and diastolic dysfunction is thought to be abnormal intracellular Ca2+ handling. But we did nothing about Annexin A5 gene mutation(s) and DCM.To investigate the relationship between the Annexin A5 gene mutation(s) and DCM patients in South Sichuan,our research may provide a new path to explore the pathogenesis of DCM patients and more basis for gene diagnosis and gene therapy. Methods:The PCR-DHPLC(Polymerase Chain Raction-Denaturing High Performance Liquid Chromatography) and DNA sequencing analysis were used to detect the mutation of these exons(2-13) of Annexin A5 gene in 153 cases of DCM patients and 141 healthy controls. Results:Through this method,we fond 3 mutations in Annexin A5 gene in DCM patients.The change did not result in amino acid change.No mutation was identified in controls. Conclusion:It is for the first time we found 3 mutations in Annexin A5 gene in Chinese DCM patients.The mutations in Annexin A5 gene may be associated with DCM.

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CLC: > Medicine, health > Internal Medicine > Heart, blood vessels ( circulatory ) disease > Heart disease > Myocardial diseases
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