A hosszú QT-szindróma a betegágytól a molekuláris genetikai laboratóriumig. Az elso magyar eset genetikai analízisének története röviden

Translated title of the contribution: The long QT syndrome from the bedside to molecular genetic laboratory. The history of the first described Hungarian family

M. Csanády, Róbert Sepp

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

The authors demonstrate the developments of molecular genetic methods on the example of the first described Hungarian family suffering from inherited long QT (Romano-Ward) syndrome. The family belonged to the LQT2 subgroup according to both the clinical picture and the results of different molecular genetic methods from linkage mapping to sequencing. The final result of sequencing showed a missense mutation, affecting codon 568 in exon 7 of the KCNH2 (HERG) gene, leading to a triptophancystein change in the amino acid chain.

Original languageHungarian
Pages (from-to)2011-2016
Number of pages6
JournalOrvosi Hetilap
Volume146
Issue number39
Publication statusPublished - 2005

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Long QT Syndrome
Molecular Biology
Romano-Ward Syndrome
History
Genetic Linkage
Chromosome Mapping
Missense Mutation
Codon
Exons
Amino Acids
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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abstract = "The authors demonstrate the developments of molecular genetic methods on the example of the first described Hungarian family suffering from inherited long QT (Romano-Ward) syndrome. The family belonged to the LQT2 subgroup according to both the clinical picture and the results of different molecular genetic methods from linkage mapping to sequencing. The final result of sequencing showed a missense mutation, affecting codon 568 in exon 7 of the KCNH2 (HERG) gene, leading to a triptophancystein change in the amino acid chain.",
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AU - Sepp, Róbert

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N2 - The authors demonstrate the developments of molecular genetic methods on the example of the first described Hungarian family suffering from inherited long QT (Romano-Ward) syndrome. The family belonged to the LQT2 subgroup according to both the clinical picture and the results of different molecular genetic methods from linkage mapping to sequencing. The final result of sequencing showed a missense mutation, affecting codon 568 in exon 7 of the KCNH2 (HERG) gene, leading to a triptophancystein change in the amino acid chain.

AB - The authors demonstrate the developments of molecular genetic methods on the example of the first described Hungarian family suffering from inherited long QT (Romano-Ward) syndrome. The family belonged to the LQT2 subgroup according to both the clinical picture and the results of different molecular genetic methods from linkage mapping to sequencing. The final result of sequencing showed a missense mutation, affecting codon 568 in exon 7 of the KCNH2 (HERG) gene, leading to a triptophancystein change in the amino acid chain.

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KW - Molecular genetics

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