X连锁少汗性外胚层发育不良一家系EDA基因的突变  

Mutation of EDA Gene in One Family with X-Linked Hypohidrotic Ectodermal Dysplasia

作　　者：李岩[1] 林志淼[1] 杨勇[1] 

机构地区：[1]北京大学第一医院皮肤科,北京100034

出　　处：《中国皮肤性病学杂志》2008年第5期275-277,共3页The Chinese Journal of Dermatovenereology

基　　金：教育部新世纪优秀人才支持计划(编号:NCET-06-0015);国家自然科学基金项目(30400168);北京市科技计划项目(H020220020610)

摘　　要：目的检测一X连锁少汗性外胚层发育不良家系的EDA基因突变。方法收集患者及其父母资料,提取外周血DNA,采用PCR扩增EDA基因编码区的全部外显子及其侧翼序列,PCR产物测序,明确突变位点。以50例无关健康人作对照。结果该家系患者第7号外显子第895位鸟嘌呤G突变成腺嘌呤A,使EDA编码的蛋白第299位氨基酸密码子GGC变成AGC,导致正常的甘氨酸被丝氨酸所代替。其母亲在相同位置的碱基出现G-A双峰,显示为杂合性携带者,其父亲及50例无关健康对照未见此改变。结论G299S可能是导致该X性连锁少汗性外胚层发育不良家系临床表型的原因。Objective To identify the mutation of EDA gene in a family with X - linked hypohidrotic ectodermal dysplasia. Methods Eight coding exons of EDA gene were amplified by PCR. The products were further analyzed by direct sequencing. Resuits The patient with X - linked hypohidrotic ectodermal dysplasia in this pedigree showed a mutation at nucleotide 895 （ A 〉 G） ,causing G299S substitution in amino acid. Meanwhile, heterozygous double peaks of nucleotide G and A at the same position were found in his mother, but not in his father and 50 unrelated population - matched controls. Conclusion The G299S mutation of EDA gene may be the pathologic cause of this Chinese family with X - linked hypohidrotic ectodermal dysplasia.

关 键 词：外胚层发育不良 EDA基因 基因突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]