色素失禁症一家系NEMO基因突变检测  

Mutation analysis of NEMO gene in a pedigree with incontinentia pigmenti

作　　者：贾宁[1] 魏翔[1] 葛若木 刘江波[2] 李明[3] 张素梅[1] JIA Ning;WEI Xiang;GE Ruomu;LIU JiangBo;LI Ming;ZHANG Sumei(Laboratory of Molecular Biology and Department of Biochemistry, Key Laboratory of Gene Research of Anhui Province, Anhui Medical University, Hefei 230032, China;Department of Dermatology, Shen Zhen Bao an District Child Health Hospital, Shenzhen 518006, China;Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China)

机构地区：[1]安徽医科大学生物化学与分子生物学实验室,安徽合肥230032 [2]深圳市宝安区妇幼保健院皮肤科,深圳518006 [3]上海交通大学医学院附属新华医院皮肤科,上海200092

出　　处：《中国麻风皮肤病杂志》2019年第4期204-207,共4页China Journal of Leprosy and Skin Diseases

摘　　要：目的:检测中国汉族色素失禁症一家系NEMO基因突变。方法:收集该家系内2例患者及1名正常人外周静脉血和临床资料,提取家系及100名健康对照全基因组DNA,针对NEMO基因外显子区及其侧翼序列设计引物,PCR产物扩增后进行Sanger测序,同时MLPA检测该基因是否存在大片段缺失。结果:该家系2例患者均检测出NEMO基因第5号外显子存在一移码突变c.723_c.724insCAGG,但该家系正常人和100名健康对照个体均未检出此突变。家系内三位被检测者均不存在NEMO基因大片段缺失。结论:该色素失禁症家系内NEMO基因c.723_c.724insCAGG突变可能是其发病的原因。Objective: To detect the mutation of NEMO gene in a Chinese Han predigree with incontinentia pigmenti(IP). Methods: The data of the predigree, including 2 patients and 1 normal, was collected and DNA was extracted from peripheral blood of the predigree and 100 healthy controls. DNA was amplified and the mutation was detected by sanger sequencing of the exons regions and flanking introns of NEMO gene. The presence of large fragment deletion in this gene was detected by MLPA. Results: A novel frameshift mutation, c.723_c.724-insCAGG in exon 5 was found in NEMO gene in two patients, which was not detected in the normal family member, as well as 100 healthy blood samples. Conclusion: The mutation of c.723_c.724 insCAGG in NEMO gene may be involved in the occurrence of incontinentia pigmenti in this pedigree.

关 键 词：色素失禁症 NEMO基因 突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学] R440[医药卫生—临床医学]