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目的分析X连锁腓骨肌萎缩症(CMTX)患者Cx32基因的突变及其临床表现和电生理特点。方法应用多聚酶链反应-单链构象多态性分析结合DNA直接测序的方法,对24例无周围髓鞘蛋白(PMP)22基因大片段重复突变,家系中无男传男的腓骨肌萎缩症(CMT)先证者进行Cx32基因的突变分析;对先证者及其家系内患者进行临床和电生理检查。结果在6个X连锁遗传家系和1例散发患者中发现了7个不同的Cx32基因突变,其中4个家系临床分型为CMT1型,2个家系为CMT中间型,散发病例为CMT1型。检测到有Cx32基因突变的家系成员共38例,其中男性20例,全部为CMTX患者;女性18例,其中6例为CMTX患者,12例为无临床症状的携带者;26例患者均为周围神经轻、中度受累。结论CMTX的遗传方式可为X连锁显性、X连锁隐性遗传,也可为散发。根据临床和电生理特点分为CMT1型或CMT中间型。多为周围神经轻、中度受累,男性患者的症状通常较女性重。在没有检测到PMP22基因大片段重复突变和无男传男的CMT家系中应首先进行Cx32基因突变分析。
Objective To analyze the mutation of Cx32 gene in patients with X-linked Charcot-Marie Tooth Syndrome (CMTX) and its clinical manifestations and electrophysiological characteristics. Methods Polymerase chain reaction - single strand conformation polymorphism analysis combined with DNA direct sequencing method was used to detect the mutation of 24 large non - circumscribed myelin protein (PMP) 22 gene fragments in the pedigree, CMT) proband for Cx32 gene mutation analysis; proband and its pediatric patients in clinical and electrophysiological examination. Results Seven different Cx32 gene mutations were found in six X-linked genetic families and one sporadic patient. Four of the families were clinically classified as CMT1, two were CMT intermediate, and the other was CMT1. A total of 38 pedigrees with mutations in the Cx32 gene were detected, including 20 males, all of whom were CMTX; 18 females, 6 of whom were CMTX patients and 12 of whom were carriers without clinical symptoms; 26 were peri-urban Light, moderate involvement. Conclusion The genetic mode of CMTX can be X-linked dominant, X-linked recessive genetic, but also for the distribution. According to clinical and electrophysiological characteristics into CMT1 or CMT intermediate. Mostly peripheral nerve light, moderate involvement, the symptoms of male patients are usually heavier than women. The Cx32 gene mutation analysis should be performed first in CMT pedigrees without repeated detection of large fragments of PMP22 gene and in male CMM.