摘要
目的 探讨中国汉族人群腓骨肌萎缩症（CMT）致病基因的分布特点,分析其常见致病基因类型的临床表现、电生理特点和可能的发病机制.方法 收集2007年1月到2013年12月在北京大学第三医院诊治的CMT家系105个,用多重连接探针扩增技术（MLPA）和Sanger一代测序的方法对上述家系进行基因突变分析.结果 105个家系中,确定了51个CMT家系6种基因型的基因诊断,确诊比例为48.6％,其中,PMP22重复突变为31个家系（29.5％）,GJB1突变8个家系（7.6％）,MFN2突变4个家系（3.8％）,HSPB1突变4个家系（3.8％）,MPZ突变3个家系（2.9％）,PMP22点突变1个家系（1.0％）.PMP22重复突变的患者最为常见,但在CMT疾病中所占比例较欧美国家低,临床表现以经典型CMT为主;轴索型CMT可表现为单纯下肢受累,伴有中枢神经系统损害的表现;遗传性运动神经病可能是一个被低估的临床类型,应注意与运动神经元病等疾病的鉴别.结论 我国CMT人群的致病基因频率分布与国外报道不同,有自身的特点,需要建立基于中国汉族人群的流行病学资料库.
Objective To identify the gene mutation of Chinese Charcot-Marie-Tooth （CMT） pedigrees and investigate the association of gene mutation to the clinical manifestations and electrophysiology,and the underlying mechanisms.Methods A total of 105 pedigrees with CMT in our hospital were enrolled from January,2007 to December 2013.The clinical features,CMT neuropathy score （CMTNS） and electrophysiological data were collected.Gene mutations were analyzed using multiplex ligation-dependent probe amplification （MLPA） and Sanger gene sequencing.Results We found 31 （29.5%） PMP22 duplication pedigrees,8 （7.6%） GJB1 mutation pedigrees,4 （3.8%） MFN2 mutation pedigrees,4 （3.8%） HSPB1 mutation pedigrees,3 （2.9%） MPZ mutation pedigrees and 1 （1.0%） PMP22 mutation pedigree.In Chinese Han population,the proportion of PMP22 duplication was relatively lower than that in western countries and manifested with classical clinical characteristics of CMT.Subjects with axonal CMT often presented with isolated lower extremity injury and with central nervous system involvement.Hereditary motor neuropathy might be underestimated in clinical setting and should be differentiated from motor neuron disease.Conclusions The gene frequency distribution in patients with CMT in Chinese Han population is different from that in patients from western countries.We should establish our own epidemiological data of CMT in Chinese Han population.
出处
《中华内科杂志》
CAS
CSCD
北大核心
2015年第7期623-627,共5页
Chinese Journal of Internal Medicine
基金
国家自然科学基金（81030019）
