SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia.
作者： Lishen Shan , Naomasa Makita , Yanlin Xing , Sayaka Watanabe , Takeshi Futatani
DOI: 10.1016/J.YMGME.2007.10.009
关键词:
摘要: Left ventricular noncompaction (LVNC) is a genetically heterogenous disorder. Mutations in the human cardiac sodium channel alpha-subunit gene (SCN5A) are involved pathophysiology of arrhythmias and cardiomyopathies. This study was performed to compare frequency SCN5A variants LVNC patients with or without arrhythmias, investigate relationship between disease severity. DNA isolated from peripheral blood 62 Japanese probands LVNC, comprising 17 familial cases 45 sporadic cases. Blood samples were screened for using single-strand conformational polymorphism analysis (SSCP) sequencing. Seven variants, rs6599230:G > A, c.453C T, c.1141-3C rs1805124:A G (p.H558R), rs1805125:C T (p.P1090L), c.3996C rs1805126:T C identified 7 12 The significantly higher than those (50% vs 7%: P = 0.0003), suggesting these represent risk factor arrhythmia supporting hypothesis that genes encoding ion channels pathophysiology. heart failure also had high occurrence presence and/or increase severity LVNC.
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