检测编号：GS1000597

服务项目

境象生物为您提供NF1基因的突变检测服务。

样本要求

唾液（2ml以上）、全血（2ml以上）

服务周期

合同签订后30个工作日。

报告结果

服务报告包含检测基因、检出位点、基因型、是否发生突变、突变等位基因频率等结果。

检测方法

测序法

基因信息

基因名称	基因全名	基因位置	外显子个数	CDS长度
NF1	neurofibromin 1	17q11.2	57	约12362 bp
基因摘要	This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008].

相关文献

1. Behjati S et al, Recurrent PTPRB and PLCG1 mutations in angiosarcoma., Nature genetics;46(4):376-9, 2014, PubMed Link
2. Crompton BD et al, The Genomic Landscape of Pediatric Ewing Sarcoma., Cancer discovery, 2014, PubMed Link
3. Gao YB et al, Genetic landscape of esophageal squamous cell carcinoma., Nature genetics;46(10):1097-102, 2014, PubMed Link
4. Giannakis M et al, RNF43 is frequently mutated in colorectal and endometrial cancers., Nature genetics;46(12):1264-6, 2014, PubMed Link
5. Kakiuchi M et al, Recurrent gain-of-function mutations of RHOA in diffuse-type gastric carcinoma., Nature genetics;46(6):583-7, 2014, PubMed Link