原发性红斑肢痛症中SCN9A基因的突变热点  

Hot Mutation Spots of SCN9A Gene in Primary Erythermalgia

作　　者：张黎黎[1] 林志淼[1] 马志红[2] 杨艳玲[3] 于力[4] 杨勇[1] 

机构地区：[1]北京大学第一医院皮肤科,北京100034 [2]牡丹江医学院附属医院皮肤科,黑龙江牡丹江157010 [3]北京大学第一医院儿科,北京100034 [4]广州市第一人民医院儿科,广东广州510180

出　　处：《中国皮肤性病学杂志》2006年第11期649-651,共3页The Chinese Journal of Dermatovenereology

基　　金：北京市科技计划项目(H020220020610);国家自然科学基金项目(30400168)

摘　　要：目的研究原发性红斑肢痛症1个家系及两个散发病例的SCN9A基因突变情况,探讨该基因的突变热点。方法提取基因组DNA,PCR扩增SCN9A所有外显子并测序,对比分析已报道的SCN9A基因突变。结果在该家系患者发现SCN9A基因突变为C1185G,对应氨基酸改变为N395K,两个散发病例SCN9A基因突变均为T2543C,对应氨基酸改变为I848T;这两个突变位点在既往文献中均有报道。结论SCN9A基因N395K和I848T突变为该家系和散发患者出现临床症状的原因,推测L858,I848和N395可能为该基因的突变热点。Objective To identify SCN9A gene mutations in one family and two sporadic patients with primary erythermalgia and to investigate the SCN9A gene hot mutation spots. Methods Mutations in SCN9A gene were detected by PCR amplification of all the 26 coding exons of SCN9A gene and sequencing. Review the literatures about primary Erythermalgia and analysis the SCN9A gene mutation spots . Results We found N395K mutation in the family and I848T mutation in the two sporadic patients in SCN9A gene. These two mutation spots have been reported previously. Conclusion N395K and I848T mutations are the causes of clinical phenotypes of these patients;L858 ,I848 and N395 may be the hot mutation spots of SCN9A gene in primary erythermalgia.

关 键 词：原发性红斑肢痛症 SCN9A基因 基因突变 突变热点 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]