Použití metod SSCP a TGGE pro screening kandidátních genů LQTS
| Title in English | Usage of SSCP and TGGE for Screening of LQTS Candidate Genes |
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| Authors | |
| Year of publication | 2006 |
| Type | Article in Proceedings |
| Conference | X. Pracovní setkání biochemiků a molekulárních biologů |
| MU Faculty or unit | |
| Citation | |
| Field | Genetics and molecular biology |
| Keywords | LQTS; SSCP; TGGE; Screening |
| Description | Fourty seven pairs of the primers which cover the coding region of the genes SCN5A and KCND3 were designed. We optimized the conditions of PCR and SSCP for all analyzed fragments and TGGE for all the fragments of the gene KCND3 and the exon 2 and 28-3 of gene SCN5A. We screened the gene SCN5A of 65 patients, the gene KCND3 of 25 patients suspicious of LQTS. No mutation leading to LQTS was found. We found two SNPs in our file of patients at the position 5457 (exon 28) and 87 (exon 2) from the beginning of coding sequence of the gene SCN5A. Both SNPs are synonymous. |
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