低钾型周期性麻痹一家系相关基因分析

The gene alteration of hypokalemic periodic paralysis

目的筛查低血钾性周期性麻痹家系的骨骼肌二氢吡啶受体敏感的钙离子通道α1亚基、骨骼肌电压门控钠离子通道α亚基基因和钾离子通道KCNE3基因突变。方法以NaI法提取患者和对照组新鲜外周抗凝血白细胞DNA,进行目的片段的PCR扩增。然后对PCR产物作SSCP分析,最后对部分小片段产物行克隆测序,较大片段产物直接测序。结果发现钙离子通道α1亚基11号外显子和26号外显子上共三个无义突变,其他位点均无突变。结论该家系HypoPP发病机制可能存在另外的基因突变,有待进一步研究。

Objective： To study the mutations in CACNL1A3, SCN4A and KCNE3 genes in a Chinese family with hypokalemic familial periodic paralysis （hypoPP）. Methods： The gene mutat ration was examined by polymerase chain reaction single stranded conformational polymorphism （PCR- SSCP） technique in the patients. Results： Three nonsense mutations were found in patients. Conclusion： The Chinese family with hypokalemic periodic paralysis is possible related to other genes.