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X连锁腓骨肌萎缩症家系GJB1基因突变分析

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摘要 目的探讨一个腓骨肌萎缩症(Charcot-Marie-Tooth,CMT)家系的分子遗传学病因。方法对先证者及家系成员进行临床分析、电生理检查和系谱分析后,用直接测序法对先证者及家系成员进行GJB1(gap junction proteinβ1)基因突变分析。结果该家系9例患者临床表现及系谱分析符合X连锁显性遗传型CMT(CMTXD)特征;肌电图提示先证者及其父上、下肢多发对称性感觉/运动神经纤维脱髓鞘损害,合并轴索损害;基因分析显示该家系5例患者发生了GJB1 c.44G>A突变,女性为杂合子突变,男性为半合子突变。结论该家系为X连锁显性遗传型CMT家系,GJB1 c.44G>A突变是家系患者的分子遗传学病因。
作者 成建 林颖 季修庆 周静 张菁菁 刘安 李璃 马定远 许争峰
机构地区 南京医科大学附属南京妇幼保健院产前诊断中心
出处 《临床检验杂志》 CAS CSCD 北大核心 2013年第1期17-19,共3页 Chinese Journal of Clinical Laboratory Science
基金 江苏省医学创新团队与领军人才课题(LJ201109) 南京市卫生局科技发展项目(YKK11059) 南京市科技发展计划项目(201201064) 南京医科大学科技发展基金重点项目(2011NJMU215)
关键词 腓骨肌萎缩症 X连锁遗传 GJB1基因
分类号 R746.4 [医药卫生—神经病学与精神病学]
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参考文献10

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