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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."xsd:string
http://purl.uniprot.org/citations/16761416http://purl.uniprot.org/core/author"Zhang L."xsd:string
http://purl.uniprot.org/citations/16761416http://purl.uniprot.org/core/author"Wang B."xsd:string
http://purl.uniprot.org/citations/16761416http://purl.uniprot.org/core/author"Zhou B."xsd:string
http://purl.uniprot.org/citations/16761416http://purl.uniprot.org/core/author"Rao L."xsd:string
http://purl.uniprot.org/citations/16761416http://purl.uniprot.org/core/author"Wang Y.P."xsd:string
http://purl.uniprot.org/citations/16761416http://purl.uniprot.org/core/author"Chen X.Y."xsd:string
http://purl.uniprot.org/citations/16761416http://purl.uniprot.org/core/date"2006"xsd:gYear
http://purl.uniprot.org/citations/16761416http://purl.uniprot.org/core/name"Sichuan Da Xue Xue Bao Yi Xue Ban"xsd:string
http://purl.uniprot.org/citations/16761416http://purl.uniprot.org/core/pages"391-394"xsd:string
http://purl.uniprot.org/citations/16761416http://purl.uniprot.org/core/title"[Correlation between desmin gene, platelet-activating factor acetylhydrolase gene and dilated cardiomyopathy]."xsd:string
http://purl.uniprot.org/citations/16761416http://purl.uniprot.org/core/volume"37"xsd:string
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