论文部分内容阅读
目的探讨小热休克蛋白22(smallheatshockprotein22,HSP22)基因在中国人腓骨肌萎缩症(CharcotMarieToothdisease,CMT)中的突变特点。方法应用聚合酶链反应和DNA直接测序方法,对1个发现HSP22基因423(G→T)突变的CMT2L家系外的114个CMT家系先证者进行了HSP22基因的突变分析。结果114个先证者中有2例患者在HSP22基因的第3外显子发生了582(C→T)碱基改变,由于编码的氨基酸未改变,均为色氨酸(Thr),为一种同义突变。结论HSP22基因突变在中国人的腓骨肌萎缩症患者中少见,突变率为0.87%(1/115)。
Objective To investigate the mutation of small heat shock protein 22 (HSP22) in Chinese Charmot-Marie-Tooth disease (CMT). Methods Mutations of HSP22 gene in 114 CMT families except CMT2L with 423 (G → T) mutations in HSP22 gene were analyzed by polymerase chain reaction and DNA direct sequencing. Results Two of the 114 probands had a 582 (C → T) base change in exon 3 of HSP22 gene. Since all the encoded amino acids were unchanged, they were all tryptophan (Thr) Synonymous mutation. Conclusion The mutation of HSP22 gene is rare in Chinese patients with Charcot-Marie Tooth Syndrome, the mutation rate is 0.87% (1/115).