常染色体显性遗传夜发性额叶癫痫人群的CHRNB2及CHRNA2基因突变筛查  

Mutational analysis of CHRNB2 and CHRNA2 genes in southern Chinese population with autosomal dominant nocturnal frontal lobe epilepsy

作　　者：陈志红[1] 翟琼香[1] 桂娟[1] 张宇昕[1] 郭予雄[1] 丁健[1] 郝英[1] 

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

出　　处：《中华医学遗传学杂志》2011年第1期14-18,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（81071046）;广东省科技计划基金（20108031600159）;广东省医学科研基金（B2010013）

摘　　要：目的 研究常染色体显性遗传夜发性额叶癫痫（autosomal dominant nocturnal frontal lobe epilepsy，ADNFLE）人群的CHRNB2及CHRNA2基因突变情况。方法收集106例汉族ADNFLE患者血样，其中散发病例74例，家系病例32例。应用PCR产物直接测序方法进行筛查CHRNB2基因组全部外显子以及CHRNA2第6-7外显子序列。选取200名汉族健康人作为对照。结果所有病例CHRNB2和CHRNA2基因均未发现目前已报道的突变。然而，在1个散发病例的CHRNB2基因第5外显子发现新同义突变H161H（c．483C〉T）。H161H表现为杂合子变异，证实在患者表型正常的母亲中也存在，200名健康对照结果显示阴性。在另1例散发病例CHRNB2基因第6外显子发现新单核苷酸多态C．1407C〉G，该变异在3名健康对照中亦同时存在。结论CHRNB2和CHRNA2基因可能不是我国ADNFLE患者的主要致病基因，新同义突变H161H尚未在国内外报道，是否致病有待进一步研究证实。Objective To investigate the gene mutations of CHRNB2 and CHRNA2 in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy （ADNFLE）. Methods One hundred and six Han nationality patients （74 sporadic and 32 familial） were recruited and studied. Mutational screening was performed by sequencing all the 6 coding exons of the CHRNB2 gene and exons 6 and 7 of the CHRNA2 genc including the donor and acceptor splice sites. Results The results excluded the involvement of all known published mutations of the CHRNB2 and CHRNA2 genes. However, a novel synonymous mutation c. 483C〉T （H161H） and a single nucleotide polymorphism （c. 1407C〉G） of CHRNB2 gene were detected in two ADNFLE sporadic patients respectively. The nucleotide variation H161H was heterozygous and absent in 200 healthy control samples. The mutation was also found in the proband＇ s unaffected mother. Conclusion Our study suggests that the mutations of CHRNB2 and CHRNA2 genes may be rare in Chinese ADNFLE population. The novel synonymous mutation of H161H has not been reported previously and its impact on the pathogenesis of ADNFLE needs to be further studied.

关 键 词：夜发性额叶癫痫 CHRNB2基因 CHRNA2基因 突变 

分 类 号：R742.1[医药卫生—神经病学与精神病学]