一例交界型大疱性表皮松解症患儿LAMA3基因突变检测  

Mutations of LAMA3 gene in a child with junctional epidermolysis bullosa

作　　者：孔祥生 刘江波[3] 陈付英[4] 胡小华 李明[4] KONG Xiangsheng;LIU Jiangbo;CHEN Fuying;HU Xiaohua;LI Ming(Shanghai Aberlong Biological Technology Co., Ltd, Shanghai 201109,China;School of Life Sciences, Fudan University, Shanghai 200433,China;Department of Dermatology, Bao’an Maternal and Child Health Hospital, Shenzhen, Guangdong 518102, China;Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China)

机构地区：[1]上海安百隆生物科技有限公司,上海201109 [2]复旦大学生命科学学院,上海200433 [3]深圳市宝安区妇幼保健院皮肤科,深圳518102 [4]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5期269-272,共4页China Journal of Leprosy and Skin Diseases

摘　　要：目的:检测1例交界型大疱性表皮松解症患儿LAMA3基因突变情况。方法:提取1例交界型大疱性表皮松解症患儿及其父母的外周血DNA,通过靶向捕获-高通量测序检测患儿的基因突变,用Sanger测序法进行父母验证,同时通过cDNA测序来验证异常的RNA剪接。结果:在患儿LAMA3基因上检测到两个新的影响RNA剪接的突变,即c.1478+5G>A(导致在mRNA上c.1381_1478del)和c.4647+5G>C(导致在mRNA上c.4647_4648ins74),患儿的这2个突变分别遗传自其父亲和母亲。结论:本次检测到的LAMA3基因上的2个致病突变,可能因严重破坏层粘连蛋白-332的功能性α3肽链的合成而导致患儿发病。Objective: To detect mutations in a child with junctional epidermolysis bullosa. Methods: DNA was extracted from 2mL peripheral blood in the patient and his parents. Mutations were detected by targeted region and high-throughput sequencing in the patient and were confirmed by Sanger dideoxy sequencing in the parents. Then aberrant RNA splicing was confirmed by cDNA sequencing. Results: Two novel mutations of c.1478+5G>A (c.1381_1478del) and c.4647+5G>C (c.4647_4648ins74) were detected in the patients and his parents. Conclusion: The two mutations in LAMA3 gene may disrupt the production of functional alpha-3 chains of laminin-332 proteins,,leading to the phenotype of the disease.

关 键 词：交界型大疱性表皮松解症 LAMA3基因 

分 类 号：R758.59[医药卫生—皮肤病学与性病学]