Objective: To test the Missense mutation of Desmin gene (Ile451Met), the frequency of missense mutation (G994-->T) of Platelet-Activating Factor Acetylhydrolase (PAF-AH) gene, and the correlation between these mutations and dilated cardiomyopathy (DCM) in the Chinese population with DCM.
Methods: A case control study was conducted with 89 DCM patients and 110 healthy people (control group) participating in the study. The exon 8 of Desmin gene and exon 9 of PAF-AH gene were identified by polymerase chain reaction, restriction enzyme digestion, polyacrylamide gel electrophoresis and DNA sequencing for described mutation site of Desmin (Ile451Met) and PAF-AH (Val279Phe).
Results: No mutation (Ile451Met) in Desmin gene was found in either the DCM patients or the healthy people. There was no significant difference in the frequency of PAF-AH gene mutation (Val279Phe) between the patient and control groups (P>0.05).
Conclusion: Neither the mutation of Ile451Met in gene encoding for Desmin exon 8 nor the mutation frequency of PAF-AH gene (G994-->T) has correlation with the DCM.