CAJ | 학술논문

目的：先天性有汗性外胚层发育不良是一种常染色体显性遗传病，GJB6基因突变与之相关。调查一个来自中国的先天性有汗性外胚层发育不良家系与GJB6基因的关系。方法：收集一个共有17个家系成员（患者8人，5男3女）的先天性有汗性外胚层发育不良家系，采集家系成员的外周血，抽提DNA。然后针对GJB6基因的每个外显子设计引物，应用聚合酶链式反应（PCR）方法扩增GJB6基因的整个编码区，测序、筛查突变。结果：通过对家系患者的GJB6基因筛查，发现了一个杂合错义突变c.31G>A (p.G11R)。结论：GJB6基因错义突变c.31G>A (p.G11R)导致该家系先天性有汗性外胚层发育不良。
목적：선천성유한성외배층발육불량시일충상염색체현성유전병，GJB6기인돌변여지상관。조사일개래자중국적선천성유한성외배층발육불량가계여GJB6기인적관계。방법：수집일개공유17개가계성원（환자8인，5남3녀）적선천성유한성외배층발육불량가계，채집가계성원적외주혈，추제DNA。연후침대GJB6기인적매개외현자설계인물，응용취합매련식반응（PCR）방법확증GJB6기인적정개편마구，측서、사사돌변。결과：통과대가계환자적GJB6기인사사，발현료일개잡합착의돌변c.31G>A (p.G11R)。결론：GJB6기인착의돌변c.31G>A (p.G11R)도치해가계선천성유한성외배층발육불량。
Objective:Mutation in the gap junction beta 6 (GJB6) gene has been reported to be associated with an autosomal dominant disorder hidrotic ectodermal dysplasia (HED), characterized by congenital nail clubbing, alopecia and palmoplantar keratoderma. The aim of this study is to investigate relationship between genetic mutation in GJB6 and HED in an affected Chinese family. <br> Methods:We selected a Chinese HED family consisting of a total of 17 individuals including 8 HED patients (5 males and 3 females). The whole coding region of GJB6 was amplified by polymerase chain reaction and sequenced. <br> Results:Sequence analysis identified a heterozygous missense mutation c.31G>A (p.G11R) in GJB6 gene of affected individuals, but not in healthy individuals. <br> Conclusion:A c.31G>A (p.G11R) missense mutation in GJB6 gene is the genotypic characteristic for HED in Chinese population.