KIF21A基因p.Arg954Trp突变引起先天性动眼神经麻痹  

p.Arg954Trp Mutation of the KIF21A Gene Causes Congenital Oculomotor Nerve Palsy

作　　者：陆秀兰[1] 徐承启[2] 张明昌[1] 黄渝侃[1] 

机构地区：[1]华中科技大学同济医学院附属协和医院眼科,武汉430022 [2]华中科技大学人类基因组研究中心,武汉430074

出　　处：《华中科技大学学报（医学版）》2010年第5期644-648,共5页Acta Medicinae Universitatis Scientiae et Technologiae Huazhong

基　　金：湖北省自然科学基金资助项目(No.2008CBD358)

摘　　要：目的在先天性动眼神经麻痹家系中定位相关致病基因并克隆该基因。方法对1个先天性动眼神经麻痹家系(3代共16人)通过血液基因组提取和微卫星连锁分析寻找基因突变所在区域,计算有利连锁优势比的对数值(log-arithm of the odds of linkage,LOD),并对该区域内的可能致病基因进行突变筛选和突变验证。结果微卫星标记连锁分析发现位于12p11-12p12区域的D12S85和D12S345区域显示与该家系疾病紧密连锁,LOD值为2.4。对家系KIF21A基因全部外显子进行的突变检测分析显示21号外显子存在c.2680C>T(p.Arg954Trp)的碱基改变。结论 KIF21A基因c.2680C>T(p.Arg954Trp)突变是导致该先天性动眼神经麻痹的致病因素。Objective To locate the virulence gene from a pedigree affected with congenital oculomotor nerve palsy and to clone the associated gene.Methods Microsatellite markers＇ linkage analysis technique was applied to accomplish the following items：①To extract the blood genomic DNA and to identify the suspected mutation region in a family（16 members of 3 generations）affected with congenital oculomotor nerve palsy;②To calculate the logarithm of the odds of linkage value（LOD）value;③To perform a mutation screening and verification for the suspected virulence gene.Results Microsatellite markers＇ linkage analysis revealed that D12S85 and D12S345,that were located in the 12p11-12p12 region,were closely linked to the disease in the pedigree.The LOD value was 2.4.Mutation analysis of all exons of the pedigree＇s KIF21A gene detected a base alteration of c.2680C〉T（p.Arg954Trp）in the exon 21.Conclusion The c.2680C〉T（p.Arg954Trp）mutation of the KIF21A gene is the risk factor of congenital oculomotor nerve palsy.

关 键 词：先天性动眼神经麻痹 KIF21A基因 基因突变 

分 类 号：R777.4[医药卫生—眼科]