Determination of full-length cDNA and genomic structure of the tumor suppressor gene candidates in lung cancer and screening for their mutations

我们对肿瘤抑制候选基因胰岛素样生长因子2受体（IGF 2 R）、PTEN/MMAC 1及其同源基因、Hbub 1和Hmad 2基因进行了结构分析。我们还进行了突变分析。据报道，IGF 2 R基因在人类肿瘤中发生突变，通过抑制转化生长因子β（TGFβ）的活化，并通过IGF 1 R途径导致肿瘤细胞生长。我们对该基因进行了基因组结构测定，并在GenBank中注册。在肺腺癌中发现突变，分析了已报道的PTEN/MMAC 1同源基因PTH 2，其似乎是假基因。PTEN/MMAC 1基因突变分析显示，33.3%的原发性肺癌伴远处转移患者存在基因丢失。在有丝分裂检查点基因的分析中，发现hBUB 1基因的体细胞突变。我们还确定了hMAD 2基因的基因组结构。我们将进行hMAD 2基因的突变分析和其他有丝分裂检查点基因的结构和突变分析。

We conducted the structural analysis of the tumor suppressor candidates, Insulin-like growth factor 2 receptor (IGF2R), PTEN/MMAC1, its homologies, Hbub1, and Hmad2 gene. We also performed their mutational analysis. IGF2R gene were reported to be mutated in human tumors, resulting in tumor cell growth by inhibiting the activation of transformaing growth factor β (TGFβ) and through IGF1R pathway. We determined and registered the genomic structure of the gene into GenBank. A mutation in a adenocarcinoma of the lung was found. PTH2, a reported PTEN/MMAC1 homologue, was analyzed and seemed to be a pseudogene. In PTEN/MMAC1 mutation analysis, allelic losses were found in 33.3% of primary lung cancer with distant metastasis. In the analysis of the gene involved in mitotic checkpoint, a somatic mutation of the hBUB1 gene was found . We also determined the genomic structure of the hMAD2 gene. We will perform the mutation analysis of the hMAD2 gene and the structural and mutational analysis of other mitotic checkpoint genes.