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X性连锁少汗性外胚层发育不良家系ED1基因突变检测

陈建军,杨森,宋映雪,熊晓燕,张安平,何平平,高敏,李月彬,林达,黄薇,张学军

CHINESE JOURNAL OF DERMATOLOGY（2003）

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Abstract
目的探讨X性连锁少汗性外胚层发育不良(XLHED)家系中ED1基因突变.方法收集2个X性连锁少汗性外胚层发育不良家系外周血标本;采用聚合酶链反应(PCR)结合DNA直接双向测序的方法.结果家系1中ED1基因的第8个外显子下游与内含子8交界处存在一个新的剪接点缺失突变(IVS8+5 del G).家系2中第9个外显子处存在一个错义突变(A959G).这些突变未在两个家系的正常人及188例无关正常对照者中出现.结论中国人ED1基因突变可引起XLHED,且IVS8+5del G为一个新的突变.
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