Identification of a novel KCNH2 mutation in a family with congenital long QT syndrome and prediction of the secondary structure of its encoding protein / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 704-707, 2008.
Artigo
em Chinês
| WPRIM
| ID: wpr-307985
ABSTRACT
<p><b>OBJECTIVE</b>To identify the gene mutation in a Chinese family with congenital long QT syndrome (LQTS) and predict the changes of the secondary structure of the protein.</p><p><b>METHODS</b>Polymerase chain reaction and DNA sequencing were used to screen for KCNH2 mutation in the proband. After the mutation was identified, KCNH2 gene of the family members was screened by multiplex PCR with site-specific primers. Network analysis software was used to predict the secondary structure of the KCNH2 protein.</p><p><b>RESULTS</b>A novel heterozygous missense mutation of F463L(GenBank accession no.EU218526) located at the transmembrane domain S2 of KCNH2 was detected. The mutation did not result in the change of the transmembrane domain, but altered the hydrophobicity and secondary structure of the protein.</p><p><b>CONCLUSION</b>The novel mutation identified in this study has enriched the GenBank data of ion channel gene mutation in LQTS. The changes of the secondary structure caused by the gene mutation were analyzed by Mfold and TMHMM software, which may help to understand LQTS.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Síndrome do QT Longo
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Análise Mutacional de DNA
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Dados de Sequência Molecular
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Sequência de Bases
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Química
/
Sequência de Aminoácidos
/
Estrutura Terciária de Proteína
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Estrutura Secundária de Proteína
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Mutação de Sentido Incorreto
Tipo de estudo:
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2008
Tipo de documento:
Artigo
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