X性连锁少汗性外胚层发育不良家系ED1基因突变检测

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。

Mutations in ED1 Gene of Two Pedigrees with X-linked Hypohidrotic Ectodermal Dysplasia

Objective To detect ED1 gene mutations in the families with X-linked hypohidrotic ec-todermal dysplasia (XLHED). Methods Blood samples were obtained from 2 pedigrees. All 8 exons and flanking intronic boundaries of ED1 gene were amplified with polymerase chain reaction technique and then directly sequenced. Results Two mutations were found in ED1 gene. One was splicing mutation (IVS8+5 del G), the other was missense mutation (A959G). None of the mutations was found in normal individuals of two XLHED families and in 188 unrelated, population-matched control individuals. Conclusion Out of the ED1 gene mutations identified in 2 Chinese XLHED families, IVS8+5del G is a novel mutation.