检测编号：SS0820529

服务项目

境象生物为您提供PDGFRA基因的突变检测服务。

样本要求

新鲜或石蜡包埋的病理组织样本（≥100mg组织）

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
PDGFRA	platelet-derived growth factor receptor, alpha polypeptide	4q12	23	约6574 bp
基因摘要	This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012].

相关文献

1. Gao YB et al, Genetic landscape of esophageal squamous cell carcinoma., Nature genetics;46(10):1097-102, 2014, PubMed Link
2. Giannakis M et al, RNF43 is frequently mutated in colorectal and endometrial cancers., Nature genetics;46(12):1264-6, 2014, PubMed Link
3. 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
4. Lee SY et al, Comparative genomic analysis of primary and synchronous metastatic colorectal cancers., PloS one;9(3):e90459, 2014, PubMed Link
5. Martin D et al, The head and neck cancer cell oncogenome: A platform for the development of precision molecular therapies., Oncotarget, 2014, PubMed Link