摘要
目的探讨ELP4基因rs986527多态性与伴中央颞区棘波的儿童良性癫痫（BECT）易感性之间的关系，揭示其发病机制、临床与脑电图特点及预后情况。方法以山东大学齐鲁医院95例BECT患儿为研究对象，收集其临床资料及外周静脉血，采用聚合酶链反应（PCR）、基因测序方法，检测95例BECT患儿和102例健康对照者基因分型，观察ELP4基因rs986527多态位点在BECT患者和健康对照间分布频率的差异。结果BECT于儿童期发病，以睡眠中局限运动性发作或局限性发作继发全面性发作为主，脑电图背景活动正常，痫样放电多局限或以中央、颞区为主，睡眠脑电图检查亦有异常放电。神经影像学检查大致正常，大部分患儿药物反应良好。ELP4基因第9内含子rs986527位点基因频率在BECT组和健康对照组之间差异无统计学意义（P=0．29，OR=1．24，95％CI：0．83～1．84）。结论汉族人ELP4基因第9内含子rs986527位点基因多态性与BECT无关联。
Objective To investigate the relationship between the ELP4 gene rs986527 polymorphism and increased susceptibility towards benign childhood epilepsy with eentro-temporal spikes （BECT） , and to reveal its pathogenesis and its outlook on clinical eharacteristics,eleetroencephalographie （EEG） features and prognosis. Methods Ninety-five patients with BECT were enrolled as study subjects from Qilu Hospital of Shandong University with consent of patients and their guardians. Their clinical data were compiled and peripheral venous blood was collected. Genotyping of ELP4 gene rs986527 in 95 patients with BECT and 102 healthy individuals was conducted using the polymerase chain reaction（PCR） and gene sequencing methods, and the difference loci frequency of ELP4 gene rs986527 polymorphism distribution to BECT patients and healthy controls were observed. Results BECT was commonly prevalent during childhood, presenting as partial seizures or partial seizures with secondary generalized seizures during sleep. EEG examinations displayed normal activities, and the epileptic discharges were mainly localized to central and temporal regions, while the sleep EEG also showed aberrant electrical discharges. Neuroimaging findings were generally normal. Most of the patients were sensitive to anti-epilepsy drugs （ AEDs ）. No statistical difference was evident regarding the gene frequency of ELP4 gene rs986527 polymorphism site between BECT group and the control group（P =0. 29 ,OR = 1.24,95% CI：0. 83 - 1.84）. Conclusion The ELP4 gene rs986527 polymorphism has no correlation with BECT susceptibility.
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2014年第12期899-901,共3页
Chinese Journal of Applied Clinical Pediatrics
