检测编号：GS1000598

服务项目

境象生物为您提供KIT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
KIT	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	4q11-q12	21	约5176 bp
基因摘要	This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

相关文献

1. Lasho TL et al, Novel recurrent mutations in ethanolamine kinase 1 (ETNK1) gene in systemic mastocytosis with eosinophilia and chronic myelomonocytic leukemia., Blood cancer journal;5:e275, 2015, PubMed Link
2. Bruno A et al, Mutational analysis of primary central nervous system lymphoma., Oncotarget;5(13):5065-75, 2014, PubMed Link
3. Crompton BD et al, The Genomic Landscape of Pediatric Ewing Sarcoma., Cancer discovery, 2014, PubMed Link
4. Fernandez-Cuesta L et al, Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids., Nature communications;5:3518, 2014, PubMed Link
5. Gambacorti-Passerini CB et al, Recurrent ETNK1 mutations in atypical chronic myeloid leukemia., Blood;125(3):499-503, 2015, PubMed Link