低钾周期性麻痹的分子遗传学研究进展

目前已知原发性低钾型周期性麻痹（HoKPP）与遗传有关,根据其突变的基因的不同分为HoKPP1型与HoK-PP2型,两种HoKPP有着各自不同的突变基因、突变热点与外显率,这对HoKPP病人的致病基因的筛选与鉴定带来了困难。本文回顾了以往的HoKPP病例报道,优化了候选基因的筛查步骤并阐述了不同位点突变所带来的特殊表型,希望对以后的HoKPP的诊断以及发现新的突变位点带来帮助。

Study and progress of hypokalemic periodic paralysis in molecular genetics

Currently known primary hypokalemic periodic paralysis(HoKPP) related to inheritance,according to their mutant genes divided into different HoKPP type1 and HoKPP type2,two types of HoKPP have their own different mutations gene,mutation hotspots and penetrance.This causes difficulties of HoKPP gene screening and identification of disease gene.This paper reviews the reported the past cases of HoKPP,optimizes the screening procedure of candidate gene mutation and described special phenotype caused by different sites of mutations,hope benefit to the HoKPP diagnosis and the discovery of new mutations.