常染色体显性遗传夜发性额叶癫痫家系及散发病例临床特征和CHRNA4基因突变分析  

Clinical features and mutation analysis of CHRNA4 gene for families and sporadic cases affected with autosomal dominant nocturnal frontal lobe epilepsy

作　　者：翟琼香[1] 王春[1] 陈前[1] 郭予雄[1] 陈志红[1] 张宇昕[1] 桂娟[1] 汤志鸿[1] 卓木清[1] 

机构地区：[1]广东省人民医院广东省医学科学院儿科,广东省神经科学研究所,广州510080

出　　处：《中华医学遗传学杂志》2013年第6期662-665,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（81071046）;广东省科技计划项目（20098030801250,20108031600159,20128032000009）

摘　　要：目的研究中国常染色体显性遗传夜发性额叶癫痫（autosomaldominantnocturnalfrontallobeepilepsy，ADNFI．E）人群的临床特征及CHRNA4基因突变情况。方法收集257例ADNFI。E患者血样，其中散发患者215例，家系患者42例，应用PCR产物直接测序方法进行筛查CHRNA4基因全部外显子。选取200名汉族健康人作为对照。结果所有患者cHRNA4基因全部外显子未发现已报道的突变。在1例家系患者CHRNA4基因第5外显子发现新同义突变D190D（C．570C〉T），D190D表现为杂合子变异，200名健康对照结果显示阴性。在另6例患者CHRNA4基因第5外显子发现新单核苷酸多态（c．639T、／C，C．678T／C，C．1209G／T，c．1227T／c，c．1659G／A，C．1629C／T），上述变异在200名健康对照结果均为阴性。结论cHRNA4基因可能不是中国南方人群散发ADNFLE患者的主要致病基因，新同义突变D190D尚未见国内外报道，是否致病有待进一步研究证实。Objective To investigate mutations of CHRNA4 gene in Chinese patients with autosomal dominant nocturnal frontal lobe epilepsy （ADNFLE）. Methods Two hundred and fifty seven patients （inclnding 215 sporadic and 42 familial cases） were analyzed. Mutational screening was performed by sequencing all of the 6 exons of the CHRNA4 gene including the donor and acceptor splice sites. Result The results have excluded the involvement of any known mutations of the CHRNA4 gene. A novel synonymous mutation c. 570C〉T（D190D）and 6 single nucleotide polymorphisms （SNPs） of the CHRNA4 gene were detected in 6 sporadic cases, including c. 639T/C, c. 678T/C, c. 1209G/T, c. 1227T/C, c. 1659G/A, and c. 1629C/T. The SNP D190D was hererozygous and absent in 200 healthy controls. Conclusion This results suggested that mutations of the CHRNA4 gene may be rare in southern Chinese population with ADNFI.E. The synonymous mutation D190D has not been reported previously. Its impact on the pathogenesis of ADNFLE warrant further study.

关 键 词：夜发性额叶癫痫 CHRNA4基因 基因突变 

分 类 号：R742.1[医药卫生—神经病学与精神病学]