Phospholamban Mutations In Chinese Patients With Dilated Cardiomyopathy

Objective: Dilated cardiomyopathy (DCM) is a major cause of congestive heart failure and heart transplantation, while its etiological factor remain poorly understood. Some researches have indicated that many gene mutations may cause DCM, which provides us more evidence to develop genetic diagnoses and therapy. In recent years, there is some controversy about phospholamban (PLN), a regulating protein of the activity of the sarcoplasmic reticulum Ca~2+-ATPase (SERCA2a), in many researches of DCM. To find out whether PLN is the virulence gene of DCM in Chinese, we investigate the PLN mutation in Chinese patients with DCM.Methods: This study included 89 patients with DCM and 110 control cases. The PLN gene fragment include nucleotide 25 and 116 was screened by polymerase chain reaction (PCR) , Single-strand conformation polymorphisms (SSCP) and nucleotide sequence analysis.Results : In polyacrylamide gel lectrophoresis, we did not find any abnormal conformer in two groups. By DNA sequence, no mutations atnucleotide 25 or 116 were identified.Conclusion: We didn't find PLN gene mutation at nucleotide 25 or 116 in Chinese patients with DCM.