Opis

• Tytuł:
  Genetic diversity ofSCN5A gene and its possible association with the concealed form 2 of Brugada Syndrome development in Polish group of patients
• Twórca:
  Uziębło-Życzkowska, Beata;
  Gielerak, Grzegorz;
  Siedlecki, Paweł;
  Pająk, Beata
• Opis:
  Brugada Syndrome (BS) is an inherited channelopathy associated with a high incidence of sudden cardiac death. The article presents the discovery of new genetic variants at SCN5A gene which might be associated with the development of concealed form of Brugada Syndrome. The study involved a group of 59 patients (37 men) with suspected concealed form of Brugada Syndrome. Pharmacological provocation with intravenous ajmaline administration was performed. Six patients with positive test result were subjected to molecular analysis of SCN5A gene with MSSCP method. Additionally, MSSCP genotyping was performed for samples obtained from the family members with Brugada Syndrome, despite they had negative ajmaline challenge test results.Genetic examinations of the SCN5A gene at 6 positive patients showed 6 known polymorphisms, 8 new single nucleotide point (SNP) variants located at exons and 12 new single nucleotide point variants at introns. Among detected in exons SNP, two of them were synonymous SNPs (no change in the coded amino acids), whereas 3 represented non-synonymous SNPs and affected the protein sequences.
• Dostępność obiektu:
  Dostęp otwarty
• Prawa:
  cc_by_nd
• Data:
  2014.09
• Typ:
  Article;
  PeerReviewed
• Język:
  angielski
• Format:
  application/pdf
• Relacja: http://eprints.ibb.waw.pl/740
• Temat i słowa kluczowe:
  QP Physiology;
  R Medicine (General)
• Identyfikator: http://eprints.ibb.waw.pl/740/1/2014_BMRI_BrudadeSyndrome.pdf ;
  Uziębło-Życzkowska, Beata and Gielerak, Grzegorz and Siedlecki, Paweł and Pająk, Beata (2014) Genetic diversity ofSCN5A gene and its possible association with the concealed form 2 of Brugada Syndrome development in Polish group of patients. BioMedical Research International . (In Press)
• Dostawca danych:
  Repozytorium Instytutu Biochemii i Biofizyki Polskiej Akademii Nauk
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