Publication details

Použití metod SSCP a TGGE pro screening kandidátních genů LQTS

Title in English Usage of SSCP and TGGE for Screening of LQTS Candidate Genes
Authors

RAUDENSKÁ Martina PAPOUŠEK Ivo CHROUST Karel

Year of publication 2006
Type Article in Proceedings
Conference X. Pracovní setkání biochemiků a molekulárních biologů
MU Faculty or unit

Faculty of Science

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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