摘要
目的探讨SCN5A基因变异与左心室肌致密化不全(LVNC)合并心律失常的相关性。方法从62例LVNC先证者(家族病例17例、散发病例45例)的外周血中提取DNA(其中合并心律失常34例)。用聚合酶链式反应-单链构象多态(PCR-SSCP)分析及DNA序列分析测定SCN5A基因变异情况。结果在7例家族病例和12例散发病例中发现了7种SCN5A基因变异:rs6599230:G→A、c.453C→T、c.1141-3C→A、rs1805124:A→G(p.H558R)、rs1805125:C→T(p.P1090L)、c.3996C→T和rs1805126:T→C。合并心律失常者SCN5A基因变异率高于无心律失常者(50%vs.7%)(P<0.01)。结论 SCN5A基因变异是LVNC合并心律失常的危险因素,提示编码离子通道的基因可能与LVNC的病理生理相关。
Objective To investigate the correlation between SCNSA variants and left ventricular noncompaction（LVNC） combined with arrhythmia. Methods DNA was extracted from the peripheral blood of 62 probands with LVNC（17 familial cases and 45 sporadic cases） ,of whom 34 cases were combined with arrhythmia. Blood samples were screened for variants in SCN5A using polymerase chain reaction-single strand conformational polyraorphism（PCR-SSCP） analysis and DNA sequencing. Results Seven SCN5A variants of rs6599230.. G→A, c. 453C→T, c. 1141-3C→A, rs1805124：A→G（p. H558R）,rs1805125..C→T（p. P1090L）,c. 3996C→T and rslS05126：T→C were identified in 7 familial and 12 sporadic cases. The frequency of SCN5A variants was significantly higher in the patients combined with arrhythmia than those without （50% vs. 7%）（P〈0. 01）. Conclusion SCN5A variants represent a risk factor for arrhythrnia and the genes encoding ion channels can be involved in LVNC pathophysiology.
出处
《江苏医药》
CAS
北大核心
2013年第20期2403-2406,F0003,共5页
Jiangsu Medical Journal
基金
辽宁省科技厅科学技术计划项目(20122225021-77)
