【摘要】 目的:检测5例原发性红斑肢痛症患者SCN9A基因的突变情况。方法:收集患者临床资料,提取外周血DNA,采用PCR扩增SCN9A基因编码区的全部外显子及其侧翼序列并测序。结果:在5例患者中分别发现SCN9A基因4个新的突变位点(L823R、Q10R、V872G、S211P)及1个已报道过的突变(I848T)。在50名正常人对照中未发现相同突变。结论:SCN9A基因的L823R、Q10R、V872G、S211P及I848T突变可能为引起这5例患者临床症状的病因。更多还原

【Abstract】 Objective: To determine SCN9A gene mutations in five cases of primary erythermalgia. Methods: DNA samples were extracted from five patients with primary erythermalgia, their clinical data were collected as well. Twenty-six coding exons and its flanking sequences of the SCN9A gene were amplified by PCR and DNA sequencing was followed. Results: Five different mutations of SCN9A gene were found in the five cases, including four novel mutations (L823R, Q10R, V872G and S211P) and one previously reported mutation (I848T). The mutations were not detected in fifty normal controls. Conclusion: L823R, Q10R, V872G, S211P and I848T may be the causes of the clinical phenotype in these five cases.更多还原