中国人中发现一例Charcot-Marie-Tooth病连接蛋白32基因新突变

A new mutation in the connexin 32 gene was found in Charcot Marie Tooth disease in Chinese patients

目的 了解中国人进行性腓骨肌萎缩症 (Charcot- Marie- Tooth disease,CMT)连接蛋白 32(connexin32 ,Cx32 )基因外显子 2的突变情况。方法 对 6例无亲缘关系的、无重复的 CMT1患者和 10例无亲缘关系的 CMT2患者进行 SSCP分析 ,对有异常者进行测序 ,根据突变点序列设计合适的内切酶 ,对5 0名正常对照进行酶切分析。结果 在 1例 CMT1患者发生了 Gly2 1Asp(6 2 G→ A)错义突变。用限制性内切酶 Hae 酶切 5 0名正常对照未见异常 ,表明该突变为致病性突变。结论 Gly2 1Asp是未报道过的新型突变 ,中国人 CMT1患者中

Objective To investigate the characteristics of gene mutations of connexin 32 exon 2 in Charcot Marie Tooth disease in Chinese patients. Methods Screening for connexin32 gene mutation was conducted in 6 unrelated CMT1 patients without duplication and 10 unrelated CMT2 patients. Mobility shift of exon 2 was analyzed by SSCP and further confirmed by sequencing. The PCR products were cut by appropriate restricted enzyme in 50 normal controls. Results One missense mutation at nucleotides 62(G→A) was found in a CMT1 patient. 50 normal controls were analyzed by the enzyme HaeⅢ and no abnormality was found. This proved that the mutation was the cause of disease. Conclusion This mutation has not been reported previously. A proportion of CMTX patients may exist in the group of CMT1 patients in China.