CAJ | 학술논문

目的探讨有汗性外胚层发育不良家系的基因突变及突变类型,为建立本病的基因诊断与遗传咨询提供依据.方法 PCR及Sanger测序技术对有汗性外胚层发育不良家系先证者GJB6基因外显子进行突变鉴定,对可疑的变异位点,Sanger测序检测家系其他成员该位点变异情况.结果基因检测结果表明,家系先症者GJB6基因错义突变c.31G＞A,该突变导致连接蛋白-30(connexin 30,CX-30)第11位氨基酸由甘氨酸变成精氨酸(p.G11R).家系的患者均携带此变异,而家系表型正常的个体不携带此变异.结论 GJB6基因c.31G＞A(p.G11R)突变是该有汗性外胚层发育不良家系致病基因突变.
목적 탐토유한성외배층발육불량가계적기인돌변급돌변류형,위건립본병적기인진단여유전자순제공의거.방법 PCR급Sanger측서기술대유한성외배층발육불량가계선증자GJB6기인외현자진행돌변감정,대가의적변이위점,Sanger측서검측가계기타성원해위점변이정황.결과 기인검측결과표명,가계선증자GJB6기인착의돌변c.31G＞A,해돌변도치련접단백-30(connexin 30,CX-30)제11위안기산유감안산변성정안산(p.G11R).가계적환자균휴대차변이,이가계표형정상적개체불휴대차변이.결론 GJB6기인c.31G＞A(p.G11R)돌변시해유한성외배층발육불량가계치병기인돌변.
Objective To identify the mutation of GJB6 gene in a Chinese pedigree with hidrotic ectodermal dysplasia,in hope to provide information for genetic diagnosis and counseling.Methods Blood samples were collected from a 23-year-old male proband and his family members including three affected and four unaffected individuals.Genomic DNA was extracted from the samples,and PCR was performed to amplify all the exons of GJB6 gene of the proband followed by Sanger sequencing.Putative mutations were confirmed by duplicate PCR amplification and sequencing of the affected exons in the other family members.Results A missense mutation c.31G＞A (p.G11R) in GJB6,which leads to the substitution of highly conserved glycine (G) by arginine (R) at position 11 of the connexin-30 (CX-30) protein,was detected in all the affected family members,but not in any of the unaffected individuals.Conclusion Hidrotic ectodermal dysplasia in this family is likely to be caused by the missense mutation c.31G＞A(p.G11R) in GJB6 gene.