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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 investigate the mutation of causative genes of Charcot-Marie-Tooth disease (CMT). Methods The 113 confirmed CMT families were analyzed by real-time PCR, single strand conformation polymorphism (PCR) and polymerase chain reaction (PCR) direct sequencing and other methods to detect the expression of PMP22, MPZ, CX32, EGR2, GDAP1, NEFL, HSP22 , HSP27 and other disease-causing genes for mutation detection. The results showed that 36 families were caused by PMP22 repeated mutation, 7 families were caused by CX32 gene mutation, 1 was caused by MPZ gene mutation, 1 was caused by GDAP1 gene mutation and 1 was HSP22 gene mutation As a result, one family was caused by HSP27 gene mutation, and no point mutations of PMP22, EGR2 and NEFL gene were found. Conclusion The percentage of repeat mutations of PMP22 gene in CMT was 31.9%, the percentage of CX32 gene mutation was 6.2%, the point mutations of HSP22, HSP27, MPZ and GDAP1 were 0.9%, the point mutations of PMP22, EGR2 and NEFL Rare.