title: [Correlation between desmin gene, platelet-activating factor acetylhydrolase gene and dilated cardiomyopathy].
abstract: 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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Cardiology, West China Hospital, Sichuan University, Chengdu 610041, China.
authors.forename: Bin
authors.initials: B
authors.lastname: Wang
authors.forename: Li
authors.initials: L
authors.lastname: Rao
authors.forename: Lin
authors.initials: L
authors.lastname: Zhang
authors.forename: Bin
authors.initials: B
authors.lastname: Zhou
authors.forename: Yu-ping
authors.initials: YP
authors.lastname: Wang
authors.forename: Xin-yun
authors.initials: XY
authors.lastname: Chen
mesh_terms: D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase / Q000096:biosynthesis / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D003893:Desmin / Q000096:biosynthesis / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense
chemical_list: D003893:Desmin; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase