CAJ | 학술논문

目的：分析营养不良型大疱表皮松解症新生儿的基因异常。方法应用目标区序列捕获和第二代测序技术检测1例营养不良型大疱表皮松解症的新生儿的COL7A1基因。采用Sanger测序验证患儿的突变位点，并对其父母、外祖母的样本进行突变位点的序列分析。结果二代测序结果显示患儿COL7A1基因第86个外显子上发现1个杂合突变点c.6781C>T，引起该基因第2261位氨基酸由精氨酸变为终止密码子（p.R2261X）。Sanger测序结果显示其母亲和外祖母携带相同突变。结论通过二代测序技术可以准确检测出营养不良型大疱表皮松解症COL7A1基因的突变，具有一定的临床应用价值。
목적：분석영양불량형대포표피송해증신생인적기인이상。방법응용목표구서렬포획화제이대측서기술검측1례영양불량형대포표피송해증적신생인적COL7A1기인。채용Sanger측서험증환인적돌변위점，병대기부모、외조모적양본진행돌변위점적서렬분석。결과이대측서결과현시환인COL7A1기인제86개외현자상발현1개잡합돌변점c.6781C>T，인기해기인제2261위안기산유정안산변위종지밀마자（p.R2261X）。Sanger측서결과현시기모친화외조모휴대상동돌변。결론통과이대측서기술가이준학검측출영양불량형대포표피송해증COL7A1기인적돌변，구유일정적림상응용개치。
Objectives To detect genetic causes of dystrophic epidermolysis bullosa (DEB). Methods Next-generation sequencing was used to detect a neonate with DEB. Sanger sequencing was used to confirm the results and detect his parents and grandmother on his mother side from the family. Results The neonate was found to have heterozygous mutation c.6781C>T of exon 86 in COL7A1 gene.This mutation results in R2261X nonsense mutation in typeⅦcollagen. His mother and grand-mother on his mother side have the same mutation. Conclusion Next-generation sequencing technology is a useful tool for the detection of mutations of COL7A1 gene, which is valuable for clinical application.