腫瘍性遺伝疾患の遺伝子背景についての分子病理学的研究

致癌遗传病遗传背景的分子病理学研究

• 批准号: 03454167
• 负责人: SUGIYAMA Taketoshi
• 金额: $ 2.82万
• 依托单位: KYOTO UNIVERSITY
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for General Scientific Research (B)
• 财政年份: 1991
• 资助国家: 日本
• 起止时间: 1991 至 1992
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-03454167/
• 关键词: tumor suppressor; gene mutation; loss of heterozygosity; pathological grading; point mutation; oncogene; ウィルムス腫瘍; 膀胱癌; 染色体欠失

The effects of gene mutations in human cancers were investigated by the molecular pathological analyses. The followings are the important findings from these studies. 1) Ras gene mutation did not correlate with the development of stomach cancer. 2) In urothelial cancers, chromosomal losses on 3p, 11p, 9q and 17p were found to be significant, implicating the evidence of inactivation of related tumor suppressor genes. 3) In hereditary retinoblastoma, short repeat sequences were involved in the break point of deletions. On the other hand, different mutational mechanism could be involved in the development of sporadic bladder cancer. 4) The effects of formalin fixation on DNA samples were also found to be significant under certain conditions.

通过分子病理学分析研究了基因突变在人类癌症中的作用。以下是这些研究的重要发现。1)Ras基因突变与胃癌的发生无关。2)在尿路上皮癌中，发现3p、11p、9q和17p上的染色体丢失是显著的，暗示相关肿瘤抑制基因失活的证据。3)在遗传性视网膜母细胞瘤中，短重复序列参与缺失的断点。另一方面，不同的突变机制可能参与了散发性膀胱癌的发生。4)在一定条件下，福尔马林固定对DNA样品的影响也很显著。

项目成果

Hamazaki S.et al: "The effect of formalin fixation on restriction endonuclease digestion of DNA and the PCR amplification" Pathology,Research and Practice.

Hamazaki S.et al：“福尔马林固定对 DNA 限制性内切酶消化和 PCR 扩增的影响”病理学、研究和实践。

Habuchi T.et al: "Allelic loss of chromosome 17p in urothelial cancer :strong association with invasive phenotype" J.Urol.148. 1595-1599 (1992)

Habuchi T.等人：“尿路上皮癌中染色体 17p 的等位基因丢失：与侵袭性表型密切相关”J.Urol.148。

Koshiba M. et al: "Infrequent ras mutation in human stomach cancers" Japanese Journal of Cancer Research. 84. 163-167 (1993)

Koshiba M. 等人：“人类胃癌中罕见的 ras 突变”，日本癌症研究杂志。

Koshiba M.et al: "The effect of formalin fixation on DNA and the extraction of high-molecular-weight DNA from fixed and embedded tissues" Pathology,Research and Practice. 189. (1993)

Koshiba M.等人：“福尔马林固定对 DNA 的影响以及从固定和包埋组织中提取高分子量 DNA”病理学、研究和实践。

Habuchi T.et al: "Accumulated allelic losses in the development of invasive urothelial cancer" Int.J.Cancer. (1993)

Habuchi T.等人：“侵袭性尿路上皮癌发展过程中累积的等位基因丢失”Int.J.Cancer。