Rol' polimorfizma gena konneksina 40v geneze nasledstvennogo sindroma slabostisinusovogo uzla

Cover Page


Cite item

Full Text

Abstract

Summary. In this study for the first time on clinical-genetic material an association of the hereditary sick sinus
syndrome (SSS) with the connexin 40 gene polymorphism was found.
For the first time it was revealed that the heterozygous variant of connexin 40 gene genotype was significantly more
common in patients with SSS and their healthy relatives in comparison with subjects of the control group.

References

  1. Hewett LW, Sedmera D et al. Knockout of the neural and heart expressed gene HF-1b results in apical deficits of ventricular structure and activation. Cardiovasc Res 2005; 67: 548-60.
  2. Nguyen-Tran VTD, Kubalak SW, Minamisawa S, Fiset S. A noval genetic pathway for sudden cardiac death nia defects in the transition between ventricular and conduction system cell lineages. Cell 2000; 102: 671-82.
  3. Amand TR, Lu JT, Chien KR. Defects in cardiac conduction system lineages and malignant arrhythmias: developmental pathways and disease. Novartis Found Symp 2003; PMID: 12956335 [PubMed - indexed for MEDLINE].
  4. Willecke K, Elberger J, Degen J et al. Structural and functional diversity of connexin genes in the mouse and human genome. Biol Chem 2002; 383: 725-37.
  5. Hagendorff A, Schumacher B, Kirchhoff S et al. Conduction disturbances and increased atrial vulnerability in Connexin 40-deficient mice analyzed by transesophageal stimulation. Circulation 1999; 99 (11): 1508-15.
  6. Firouzi M, Ramanna H, Kok B et al. Association of Human Connexin40 Gene Polymorphisms With Atrial Vulnerability as a Risk Factor for Idiopathic Atrial Fibrillation. Circ Res 2004; 95: e29.
  7. Маниатис Т., Фрич Э., Сэмбрук Дж. Методы генетической ин- женерии. Молекулярное клонирование. М.: Мир, 1984.
  8. Смит К., Калко С., Кантор Ч. Пульс-электрофорез и методы работы с большими молекулами ДНК. Под ред. К.Дейвиса. Пер. с англ. Анализ генома. М.: Мир, 1990; с. 58-94.
  9. Juang JM, Chern YR, Tsai CT et al. The association of human connexin 40 genetic polymorphisms with atrial fibrillation. Int J Cardiol 2007; 116 (1): 107-12.
  10. Groenewegen WA, Firouzi M, Bezzina CR et al. A Cardiac Sodium Chanall Mutation Cosegregates With a Rare Connexine40 Genotype in Familial Atrial Standstill. Circ Res 2003; 92: 14-22.
  11. Gollob MH, Jones DL, Krahn AD et al. Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. New Eng J Med 2006; 354: 2677-88.

Supplementary files

Supplementary Files
Action
1. JATS XML

Copyright (c) 2011 Eco-Vector

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
Регистрационный номер и дата принятия решения о регистрации СМИ: ПИ № ФС 77 - 64546 от 22.01.2016. 


This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies