家族性低钾周期性麻痹突变位点的特性分析

摘要

Currently, it's known that primary hypokalemic periodic paralysis is related to genetic factors, approximately 69. 0% to mutations of the voltage-gated calcium channel al subunit gene CACNA1S(1Iq31-32) ,(Type I) ; approximately 8. 6% to mutations of the voltage-gated sodium channel a subunit gene SCN4A(17q23. 1-25.3) .(Type Ⅱ) ; 22.4% unknown. Most missense mutations are located in positively charged arginine on the ion pass channel voltage sensor, most substituted by histidine. Different mutations have distinct clinical phenotypes. In order to understand the disease,here is to make a review on the characteristics of the mutation points found.%目前已知原发性低钾型周期性麻痹与遗传有关,约69.0％与电压门控钙通道α1亚单位基因CACNA1S(1q31～32)突变相关(Ⅰ型),约8.6％与电压门控钠通道α亚单位基因SCN4A(17q23.1～25.3)突变相关(Ⅱ型),22.4％未知.多数错义突变位于离子通道电压感受器上带正电荷的精氨酸,大部分被组氨酸替代.不同的突变位点其临床表型存在着差异.现对目前所发现的突变位点的特点进行总结,以利于对本病的认识.