Quantitative PCR as an Alternative in the Diagnosis of Long-QT Syndrome.
Congenital long-QT syndrome is a genetic disorder associated with abnormalities in the function and/or structure of cardiac ion channels. Up to the present, 13 types of the disease have been described (LQTS1-13) which result from the fact that 13 genes of which mutations can have an influence on the...
| Publicado en: | BioMed Research International Vol. 2013; pp. 418604 - 418605 |
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| Autores principales: | , , |
| Formato: | Journal Article |
| Publicado: |
Wiley-Blackwell
2013
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=104086520&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 104086520 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 23146133 FT2T jtl: BioMed Research International issn: 23146133 maglogo: N pubinfo: dt: 2013 vid: 2013 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 104086520 2012221624 NLM23936797 PMC3713592 104086520 ppf: 418604 ppct: 1 formats: fmt: @attributes: type: P tig: atl: Quantitative PCR as an Alternative in the Diagnosis of Long-QT Syndrome. aug: au: Moric-Janiszewska, Ewa Weglarz, Ludmila Szczurko, Magdalena affil: Department of Biochemistry, Medical University of Silesia, Narcyzów 1, 41-200 Sosnowiec, Poland. sug: subj: Carrier Proteins Membrane Proteins Long QT Syndrome Diagnosis Polymerase Chain Reaction Methods Proteins Carrier Proteins Diagnostic Use Female Genes Membrane Proteins Diagnostic Use Long QT Syndrome Long QT Syndrome Pathology Male Middle Age Mutation Middle Aged: 45-64 years Female Male ab: Congenital long-QT syndrome is a genetic disorder associated with abnormalities in the function and/or structure of cardiac ion channels. Up to the present, 13 types of the disease have been described (LQTS1-13) which result from the fact that 13 genes of which mutations can have an influence on the occurrence of the disease have been identified. Characteristic symptoms of the disease include the changes in the ECG (QT interval prolonged above 450?ms), "torsade de pointes," fainting, and even sudden cardiac death. The present study has been focused on two types of the disease, namely, LQTS1 and LQTS2. The examination of two appropriate genes expression (KCNQ1; KCNH2) at the transcription level by QRT-PCR in a group of LQTS patients and a healthy control group showed different transcriptional activities of KCNH2 gene in LQTS2 patients compared to the control individuals. KCNQ1 gene expression study did not reveal such differences between both groups. The results indicate that QRT-PCR may serve as a complimentary method to the identification of molecular alterations in genetic determinants of LQTS2 only, but it cannot be used as a sole diagnostic criterion. pubtype: Academic Journal doctype: Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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