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中文摘要：
目的对1个X连锁隐性遗传性少汗性外胚层发育不全（X-linkedhypohidroticectodermaldysplasia，xLHED）家系进行EDA基因检测，分析基因突变类型，探讨其遗传学因素及发病原因。方法对该XLHED家系进行家系调查，收集家系患者及部分成员和50名无亲缘关系的正常个体的外周血标本并提取基因组DNA，应用聚合酶链反应扩增EDA基因8个外显子，DNA直接测序进行突变检测。结果该家系中患者检出EDA基因第3外显子存在C．467G〉A突变，导致R156H错义突变。先证者的母亲及姨妈携带C．467G：〉A杂合突变，家系中正常个体和正常对照个体均未检测到该突变。结论EDA基因的R156H突变可能是引起该XLHED家系先证者少汗性外胚层发育不全的致病原因。
英文摘要：
Objective To detect potential mutations of EDA gene for a Chinese family affected with X-linked hypohidrotic ectodermal dysplasia （XLHED）. Methods Genomic DNA was extracted from peripheral blood of the proband, his relatives and 50 non-related healthy controls. Exonic sequences of the EDA gene were subjected to polymerase chain reaction amplification and direct sequencing. Results A c. 467G〉A mutation （R156H） was detected in exon 3 of the EDA gene in the proband, his mother, 2 uncles, and 1 aunt. The same mutation was not detected in the 50 non-related healthy controls. Conclusion A c. 467G〉A mutation of the EDA gene probably underlies the disease in the family.
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