Mutation detection of NF1 gene in a patient with neurofibromatosis type 1
10.3760/cma.j.issn.0412-4030.2017.06.013
- VernacularTitle:1型神经纤维瘤病NF1基因突变检测
- Author:
Jin JI
;
Qin GUO
;
Ruohua ZHANG
;
Ming LI
- Keywords:
Neurofibromatosis 1;
Genes,neurofibromatosis 1;
Mutation
- From:
Chinese Journal of Dermatology
2017;50(6):442-444
- CountryChina
- Language:Chinese
-
Abstract:
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 NF1 by affecting the function of the NF1 gene.
