腓骨肌萎缩症患者致病基因突变特点的研究  

The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease

作　　者：张付峰[1] 唐北沙[1] 赵国华[1] 罗巍[2] 夏昆[3] 刘小民[1] 肖剑锋[1] 张如旭[1] 陈彪[4] 张成[5] 潘乾[3] 蔡芳[3] 郭鹏[1] 

机构地区：[1]中南大学湘雅医院神经内科,长沙410008 [2]浙江大学第二附属医院神经内科 [3]中南大学医学遗传学国家重点实验室,长沙410008 [4]首都医科大学北京宣武医院神经内科老年病研究所 [5]中山大学附属第一医院神经内科

出　　处：《中华医学杂志》2005年第26期1809-1812,共4页National Medical Journal of China

基　　金：国家自然科学基金资助项目(30300200);国家"863"高科技研究计划基金资助项目(2004AA227040)

摘　　要：目的探讨腓骨肌萎缩症(CharcotMarieToothdisease,CMT)致病基因的突变特点。方法应用实时荧光定量PCR方法、聚合酶链反应单链构象多态性分析(PCRSSCP)或PCR直接测序等方法对113个确诊的CMT家系进行了PMP22、MPZ、CX32、EGR2、GDAP1、NEFL、HSP22、HSP27等致病基因进行突变检测。结果发现有36个家系为PMP22重复突变所致,7个家系为CX32基因突变所致,1个家系为MPZ基因突变所致,1个家系为GDAP1基因突变所致,1个家系为HSP22基因突变所致,1个家系为HSP27基因突变所致,未发现PMP22、EGR2和NEFL基因点突变。结论CMT的PMP22基因重复突变所占比例为31.9%,CX32基因突变所占比例为6.2%,HSP22、HSP27、MPZ和GDAP1基因点突变所占比例均为0.9%,PMP22、EGR2和NEFL基因点突变少见。Objective To study the characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease (CMT). Methods Real-time quantitative PCR, PCR-SSCP, and/or direct sequencing were used to analyze the mutation of the pathogenic genes PMP22, MPZ, CX32, EGR2, GDAP1, NEFL, HSP22 and HSP27 in 113 probands of CMT families, 45 of which had family history, from different provinces in China. The whole family members of the subjects with abnormal electrophoretic bands and 50 normal controls underwent the same examination.Results Thirty-six cases of PMP22 duplication, 7 cases of CX32 mutation, 1 case of HSP22 mutation, 1 case of HSP27 mutation, 1 case of MPZ mutation, and 1 case of GDAP1 mutation were found in the 113 CMT probands. No point mutation was found in PMP22, EGR2 and NEFL genes. Conclusion Among the Chinese CMT patients 31.9% are caused by PMP22 duplication, 6.2% by CX32, and 0.9% by HSP22, HSP27, MPZ and GDAP1. Point mutations of PMP22, EGR2 and NEFL are rare.

关 键 词：腓骨肌萎缩症 基因突变 聚合酶链反应-单链构象多态性分析 荧光定量PCR方法 PMP22 GDAP1 HSP27 基因点突变 disease PCR直接测序 患者 CX32 致病基因 重复突变 P22基因 MPZ 方法应用 突变检测 CMT 家系 未发现 比例 

分 类 号：R746[医药卫生—神经病学与精神病学]