2013Shandong yiyaoRequires access

Mutation detection of SCN5A gene in two members of a Chinese family with Brugada syndrome

Linqiang Tian

Open publisher page 1 citations

Abstract

Objective To observe the gene mutations of SCN5A gene in two members of a Chinese family with Brugada syndrome and to investigate the significance. Methods DNA sequencing was used to detect the SCN5A gene mutations in two members of a Chinese family with Brugada syndrome. Results One homozygous mutation was found in this family, namely SCN5A gene on twenty-eighth exon synonymous mutation( C5457T),and its encoding 1819th aspartic acid had not changed. Conclusion It is identified one synonymous mutation at SCN5A gene in two members of a Chinese family with Brugada syndrome,but the virulence gene of this family's is not SCN5A gene.

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What this paper is about

Objective To observe the gene mutations of SCN5A gene in two members of a Chinese family with Brugada syndrome and to investigate the significance. Methods DNA sequencing was used to detect the SCN5A gene mutations in two members of a Chinese family with Brugada syndrome. Results One homozygous mutation was found in this family, namely SCN5A gene on twenty-eighth exon synonymous mutation( C5457T),and its encoding 1819th aspartic acid had not changed. Conclusion It is identified one synonymous mutation at SCN5A gene in two members of a Chinese family with Brugada syndrome,but the virulence gene of this family's is not SCN5A gene.

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Available abstract

Objective To observe the gene mutations of SCN5A gene in two members of a Chinese family with Brugada syndrome and to investigate the significance. Methods DNA sequencing was used to detect the SCN5A gene mutations in two members of a Chinese family with Brugada syndrome. Results One homozygous mutation was found in this family, namely SCN5A gene on twenty-eighth exon synonymous mutation( C5457T),and its encoding 1819th aspartic acid had not changed. Conclusion It is identified one synonymous mutation at SCN5A gene in two members of a Chinese family with Brugada syndrome,but the virulence gene of this family's is not SCN5A gene.

Key concepts: Brugada syndrome, Genetics, Gene, Exon, Mutation, Biology, Gene family, Chinese family

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