检测编号：SS0690230

服务项目

境象生物为您提供MLH1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
MLH1	mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	3p21.3	20	约2607 bp
基因摘要	This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009].

相关文献

1. Crompton BD et al, The Genomic Landscape of Pediatric Ewing Sarcoma., Cancer discovery, 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. Lee SY et al, Comparative genomic analysis of primary and synchronous metastatic colorectal cancers., PloS one;9(3):e90459, 2014, PubMed Link
4. Li M et al, Whole-exome and targeted gene sequencing of gallbladder carcinoma identifies recurrent mutations in the ErbB pathway., Nature genetics;46(8):872-6, 2014, PubMed Link
5. Mouradov D et al, Colorectal cancer cell lines are representative models of the main molecular subtypes of primary cancer., Cancer research;74(12):3238-47, 2014, PubMed Link