第二代测序技术诊断新生儿营养不良型大疱表皮松解症1例及其家系分析  

Application of next generation sequencing technology for genetic diagnosis of a neonate and the family with hereditary dystrophic epidermolysis bullosa

作　　者：王艳[1] 梁静[1] 赵宝丽[2] 吴虹林[1] 刘欣[1] 封志纯[1] 

机构地区：[1]北京军区总医院附属八一儿童医院,北京100700 [2]北京军区总医院二六三临床部为兵服务办公室,北京101100

出　　处：《临床儿科杂志》2014年第5期446-448,共3页Journal of Clinical Pediatrics

基　　金：国家自然基金资助项目(No.81300527)

摘　　要：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2 261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。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.

关 键 词：营养不良型大疱表皮松解症 COL7A1基因 突变 

分 类 号：R722.1[医药卫生—儿科] R758.59[医药卫生—临床医学]