1型神经纤维瘤病NF1基因突变检测  

Mutation detection of NF1 gene in a patient with neurofibromatosis type 1

作　　者：吉津[1] 郭琴[1] 章若画 李明[2] 

机构地区：[1]南京中医药大学附属江苏省中医院皮肤科,210000 [2]上海交通大学附属新华医院皮肤科

出　　处：《中华皮肤科杂志》2017年第6期442-444,共3页Chinese Journal of Dermatology

摘　　要：目的检测1例1型神经纤维瘤病（NFl）患者NFl基因的突变。方法采用PCR和DNA测序法检测1例NF1患者、2例直系亲属及100例无亲缘关系的正常人NF1基因突变。结果在NF1患儿中检测到1个移码突变c．3822delC，患者直系亲属及100例无亲缘关系的正常对照均未检测到上述突变。结论在该例NF1患儿中新发现1个NF1基因移码突变c．3822delC不是罕见的单核苷酸多态性，可能是致病突变，通过影响NF1基因的功能致病。Objective To detect NF1 gene mutations in a patient with neurofibromatosis type 1 （NF1）. Methods Polymerase chain reaction （PCR） and DNA sequencing were performed to detect mutations of the NF1 gene in a patient with NF1, his parents and 100 unrelated healthy controls. Results A novel frameshift mutation （c.3822delC） was identified in the patient, but not found in his parents or the unrelated healthy controls. Conclusion The novel frameshift mutation （c.3822delC） found in the patient is not a rare single nucleotide polymorphism （SNP）, and may be a causative mutation for NFI by affecting the function of the NF1 gene.

关 键 词：神经纤维瘤病1型 基因 神经纤维瘤病1型 突变 

分 类 号：R739.4[医药卫生—肿瘤]