婴儿期发病的腓骨肌萎缩症家系PMP22基因突变研究

目的：研究一个婴儿期发病的腓骨肌萎缩症（CMT）家系PMP22基因突变，探讨该家系CMT的遗传学特点。方法：应用STR结合多重PCR法对2例CMT患儿及该家系内15名表型正常的成员进行PMP22基因重复突变的分析。同时选择20名健康人做为对照。结果：在2名CMT患儿及5名家系内表型正常的成员中发现了PMP22基因重复突变，其中5例突变在STR位点D17S921，2例突变在STR位点D17S4A，而家系内其余10名成员及20名健康人未发现突变。结论：该CMT家系的致病基因为17p11.2-p12区域内包含PMP22基因的重复突变，其亚型为CMT1A。

PMP22 mutation of an infant-onset Charcot-Marie-Tooth disease family

Objective To study the mutation of PMP22 gene of an early-onset family with Charcot-Marie-Tooth disease(CMT) and the genetic features of the disease.Methods Two patients with CMT,fifteen unaffected members in the family and 20 healthy controls were enrolled.STR-PCR and gene scanning were used to detect PMP22 duplication mutation.Results The mutations of PMP22 were found in the two patients and other five unaffected members in the family.The mutations were located in the STR locus D17S921 in 5 cases and in the STR locus D17S4A in 2 cases.The other members in the family and 20 healthy controls did not show the mutations of PMP22.Conclusions The gene causing CMT in the family is found in the 17p11.2-p12 region containing PMP22 gene duplication mutation,resulting in the subtype CMT1A.