两例正常血钾型周期性麻痹SCN4A基因突变分析  

Mutations in SCN4A gene exists in two Chinese patients with normokalemic periodic paralysis

作　　者：邵韶[1] 石岩[2] 高力敏[1] 李颖倩[1] 

机构地区：[1]山西医科大学,太原030001 [2]山西医科大学第一临床医学院儿科

出　　处：《中国医疗前沿》2011年第2期64-65,31,共3页China Healthcare Innovation

摘　　要：目的研究2例散发正常血钾型周期性麻痹(normokalemic periodic paralysis N orm oKPP)患者的临床特点及电压门控钠离子通道Ⅳ型a亚单位(a-subunit type Ⅳ of voltage-gated sodium channel,SCN4A)基因的突变。方法研究对象为两例散发正常血钾型周期性麻痹儿童及50例正常儿童。分别取其外周血5ml,提取DNA,应用聚合酶链式反应(PCR)扩增SCN4A基因的全部24个外显子,应用正反引物对PCR产物进行基因序列直接测序。结果 2例NormoKpp患儿均未发现SCN4A基因致病突变。但是,检测出6个SCN4A基因多态性864C>T、1570A>G、2289C>T、4126A>G、4539C>A、4869A>G。结论 SCN4A基因突变不是本研究中2例散发NormoKPP患儿的主要致病原因。Objective In this report are analysis two unrelated patients with typical normokalemic periodic paralysis（NormoKPP） features and the results of screenig the SCN4A gene for the disease related mutation.Methods Total genomic DNA was extracted from the peripheral blood leukocytes from two sporadic cases with NormoKPP and 50 unaffected controls subjects.Polymerase chain reaction（PCR） and direct DNA sequencing were used to detect 24 exons of SCN4A mutations.Results No causative mutations in the SCN4A gene were found in two sporadic cases with NormoKPP.However,six SCN4A gene polymorphisms were identified,864 CT（N288N）,1570AG（S524G）,2289CT（I763I）,4126AG（N1376D）,4539CT（I1513I） and 4869AG（T1623T）,in some patients and controls.Conclusion Mutations in the SCN4A gene is not major cause of NormoKPP in the two patients in the study.

关 键 词：正常血钾型周期性麻痹 SCN4A基因 突变 

分 类 号：R746.3[医药卫生—神经病学与精神病学]