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Quantitative PCR as an alternative in the diagnosis of long-QT syndrome.

Moric-Janiszewska E, Węglarz L, Szczurko M - Biomed Res Int (2013)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Biochemistry, Medical University of Silesia, Sosnowiec, Poland. ejaniszewska@sum.edu.pl

ABSTRACT
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.

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Related in: MedlinePlus

The ratio of mRNA copy number for KCNH2 in the female and male groups of LQTS patients. The x-axis shows type and subtype of LQTS, and the y-axis shows the average values of mRNA copies of the genes.
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fig3: The ratio of mRNA copy number for KCNH2 in the female and male groups of LQTS patients. The x-axis shows type and subtype of LQTS, and the y-axis shows the average values of mRNA copies of the genes.

Mentions: Figures 2 and 3 show a statistical trend in the difference of gene expression of tested genes in respect of gender and subtype of LQTS.


Quantitative PCR as an alternative in the diagnosis of long-QT syndrome.

Moric-Janiszewska E, Węglarz L, Szczurko M - Biomed Res Int (2013)

The ratio of mRNA copy number for KCNH2 in the female and male groups of LQTS patients. The x-axis shows type and subtype of LQTS, and the y-axis shows the average values of mRNA copies of the genes.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3713592&req=5

fig3: The ratio of mRNA copy number for KCNH2 in the female and male groups of LQTS patients. The x-axis shows type and subtype of LQTS, and the y-axis shows the average values of mRNA copies of the genes.
Mentions: Figures 2 and 3 show a statistical trend in the difference of gene expression of tested genes in respect of gender and subtype of LQTS.

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Biochemistry, Medical University of Silesia, Sosnowiec, Poland. ejaniszewska@sum.edu.pl

ABSTRACT
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.

Show MeSH
Related in: MedlinePlus