Publication details
Mutational Screening of Human Genes which Are Associated with Long QT Syndrome Occurrence
| Authors | |
|---|---|
| Year of publication | 2007 |
| Type | Article in Proceedings |
| Conference | XI. setkání biochemiků a molekulárních biologů |
| MU Faculty or unit | |
| Citation | |
| Field | Genetics and molecular biology |
| Keywords | SCN5A; Long QT Syndrome; Mutational Screening |
| Description | Long QT syndrome (LQTS) is a cardiac disease characterized by prolongation of QT interval, emergence of malignant ventricular arrhytmias leading to syncope, torsade de pointes, and sudden death. LQTS is genetically heterogenous and has been linked to at least eight different loci (LQT1-8). In general, mutations in cardiac ion channel genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CACNA1C) have been identified as a cause for LQTS. Recently also mutation in cytoskeletal protein gene ANK2 has been linked to LQTS. There is still a possibility of other genes, such as KCND3 or SCN1B, being involved in the etiology of the long QT syndrome. In our study, we have used PCR, SSCP, TGGE methodology and DNA sequencing to screen coding regions of SCN5A, KCNE2, KCNJ2, and KCND3 in LQTS suspected patients. We have also screened ankyrin B spectrin-binding domain of ANK2 encoded by exons 36 and 37 and the entire C-terminal domain encoded by exons 39-46. No allelic variant has been found in ANK2, KCNE2, and KCNJ2. Three allelic variants have been found in KCND3 (G669C, C264T, G375A) and two in SCN5A (C5457T, G87A). All variants are single nucleotide polymorphisms (SNPs) in coding regions. None of these SNPs implicates amino acid changes. We have found two novel changes in exon 2 of SCN5A (G101A, G142A), which have coding effect and have not been previously described. |
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