【摘要】 目的　通过检测相关基因的突变位点来研究低钾性周期性麻痹 (HOKPP)这一常染色体显性遗传疾病的遗传学病因。方法　运用PCR扩增及反应产物直接测序的方法 ,对一个中国人低钾周麻家系 3 2名成员进行基因筛查 ,并运用亚克隆方法进行证实。结果　在编码Na通道的基因SCN 4A上第 2 0 14位核苷酸存在一个新点突变 (CGT TGT) ,为杂合突变 ,并引起相应编码氨基酸的改变 ,由原来的精氨酸变为半胱氨酸 (R672C) ,此突变为HOKPP一个新的突变类型 ,并且经亚克隆的方法进一步证实了此杂合突变。结论　在一中国人HOKPP家系的SCN4A 12号外显子上发现了新的点突变 (C2 0 14T ) ,它只在HOKPP患者中存在。家系中各患者的表现各不相同 ,提示了R672C突变型可能具有不完全外显的特性。更多还原

【Abstract】 Objective To explore the genetic pathogenesis of hypokalemic periodic paralysis (HOKPP), an autosomal dominant disease by detecting gene mutation at related loci. Methods The genomic DNA from 6 clinically diagnosed familial HOKPP patients and the other members from the same family was prepared for polymerase chain reaction(PCR). TheproductsofPCRwerepurified and sequenced directly. Subcloning was performed to verify the assumed mutation. Results Seven persons of this family had transition mutation at C2014T in SCN4A gene as heterozygotes. This mutation was newly found and caused arginine being substituted by cysteine. This heterozygous mutation was confirmed with subcloning. No mutation in the SCN4A gene was identified in the other family members. Conclusion The new transition mutation at C2014T in SCN4A gene may be the pathologic cause in this Chinese family with familial HOKPP.更多还原