一个家族性低钾型周期性麻痹家系的基因突变研究  

Screening of genetic mutations in a Chinese pedigree affected with hypokalemic periodic paralysis

作　　者：郭曼丽 张国文 马绍刚 许铁 彭易根 

机构地区：[1]徐州医科大学,江苏221002 [2]江苏省宿迁市妇幼保健院,223800 [3]徐州医科大学附属淮安医院内分泌与代谢科,223002 [4]徐州医科大学附属医院急诊科,221002

出　　处：《中华医学遗传学杂志》2018年第1期74-77,共4页Chinese Journal of Medical Genetics

基　　金：淮安市重点研发计划（社会发展）（HAS201610）

摘　　要：目的探讨一个家族性低钾型周期性麻痹（ familial hypokalemic periodic paralysis, FPP）家系的致病突变。方法采集先证者及9名家系成员的外周静脉血样，用PCR扩增目的基因CACNA1S、SCN4A的编码区，将扩增产物纯化后直接送测序，以100名健康个体为对照组。结果先证者和5例患病亲属（共5男1女）均表现为低钾型周期性麻痹发作且均携带SCN4A基因c．664C〉T（P．Arg222Trp）突变。在3名无症状家系成员及100名健康对照中未发现相同的突变。在该家系中未发现CACNA1S基因的突变。结论SCN4A基因c．664C〉T突变是该家系发病的分子基础。家系中的患者均表现为完全外显。Objective To screen for mutations in a Chinese pedigree affected with hypokalemic periodic paralysis. Methods The proband and nine family members were enrolled for the analysis of CACNAIS and SCNdA gene mutations. Genomic DNA was extracted from peripheral blood samples. The coding regions of the two genes were amplified with PCR and subjected to Sanger sequencing. Potential impact of suspected mutations was predicted with Bioinformatics software. The mutations were also verified among 100 healthy controls. Results The proband and 5 family members （including 5 males and 1 female） had presented with episodes of flaccid paralysis accompanied by low serum potassium. Genetic testing has identified a c. 664C〉T （p. Arg222Trp） mutation in the proband, which has been reported previously. The same mutation was identified in other 5 affected members from the family. No mutation of the CACNA1S gene was detected. Conclusion The c. 664C〉T mutation of the SCN4A gene probably underlies the hypokalemic periodic paralysis in this family. All patients from the family have shown a complete penetrance of the disease.

关 键 词：低钾型周期性麻痹 CACNA1S基因 SCN4A基因 突变 

分 类 号：R746.3[医药卫生—神经病学与精神病学]