CAJ | 학술논문

目的对1个少汗型外胚层发育不良家系进行ectodysplasin A(EDA)基因序列分析,为家系成员提供准确病因诊断和遗传咨询.方法抽取家系中先证者及有血缘关系的家系成员外周静脉血,常规提取基因组DNA,应用聚合酶链式反应、DNA测序技术分析EDA基因编码区序列；选择103名无血缘关系正常人作为对照.结果在先证者及另1例男性患者的EDA基因第7外显子区域检出c.822G＞T突变,导致第274位的色氨酸变成了半胱氨酸(p.W274C),该突变位点未见文献报道.家系中的5名女性成员中检出c.822G＞T杂合突变,正常男性成员及103名正常对照均不存在此突变.结论 EDA基因c.822 G＞T突变为导致该家系成员少汗型外胚层发育不良的致病突变.
목적 대1개소한형외배층발육불량가계진행ectodysplasin A(EDA)기인서렬분석,위가계성원제공준학병인진단화유전자순.방법 추취가계중선증자급유혈연관계적가계성원외주정맥혈,상규제취기인조DNA,응용취합매련식반응、DNA측서기술분석EDA기인편마구서렬；선택103명무혈연관계정상인작위대조.결과 재선증자급령1례남성환자적EDA기인제7외현자구역검출c.822G＞T돌변,도치제274위적색안산변성료반광안산(p.W274C),해돌변위점미견문헌보도.가계중적5명녀성성원중검출c.822G＞T잡합돌변,정상남성성원급103명정상대조균불존재차돌변.결론 EDA기인c.822 G＞T돌변위도치해가계성원소한형외배층발육불량적치병돌변.
Objective To identify potential mutation of ectodysplasin A (EDA) gene in a Chinese family affected with X-linked hypohidrotic ectodermal dysplasia.Methods Blood samples were collected from the affected male proband,his family members and 103 unrelated individuals.Following extraction of genomic DNA,coding sequence of the EDA gene was amplified with PCR,and DNA sequencing was performed to detect potential mutation.Results A novel missense mutation,c.822G＞T (p.W274C),was identified in exon 7 of the EDA gene in the proband,whilst his mother was found to be a heterozygous carrier.The same mutation was also found in 5 other family members including one affected male and four females,but was absent in unaffected males and 103 unrelated individuals.Conclusion A c.822G＞T mutation in exon 7 of the EDA gene probably underlies the disease in this Chinese family.