在家族性腺瘤多重症和零星结肠癌中对APC突变的分子分析
S Cottrell1, D Bicknell, L Kaklamanis
1Cancer Genetics Laboratory, Imperial Cancer Research Fund, London, UK.
Lancet (London, England)
|September 12, 1992
概括
腺多样性胆固醇 (APC) 基因的突变与结肠癌有关. 在家族性腺瘤多重症和零星结肠瘤中,在APC基因中发现了特定的5个基对删除.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 分子生物学分子生物学
背景情况:
- 腺瘤多样性胆固醇 (APC) 基因的突变与家族腺瘤多样性胆固醇 (FAP) 和零星结肠直肠癌有关.
- 该APC基因在结肠癌的发展中起着至关重要的作用.
研究的目的:
- 为了确定与FAP和零星结肠癌相关的APC基因内的特定突变.
- 为了研究APC基因突变的频率和特征,在患者和癌症细胞系的队列.
主要方法:
- 使用单链形态多态性 (SSCP) 分析对突变的选.
- 鉴定突变的特征,包括点突变,删除和插入.
- 使用非放射性异质双重检测法检测特定突变.
主要成果:
- 在FAP和零星结肠瘤中发现了几种APC基因突变,包括引发移的删除和插入.
- 在偶发性瘤,衍生细胞系和四名非相关的FAP患者中发现了APC基因中的特定的5个基对删除.
- 这种特殊的突变通过简单的测试产生了可检测的异质双重带.
结论:
- 高度局部化的短序,特别是腺-胺运行,可能是导致大量 (高达20%) 的APC突变的原因.
- 已识别的5个基对删除可以作为APC相关疾病的潜在诊断标记.
- 对APC基因内特定突变热点的进一步研究可以增强对结肠癌发病的理解.
相关概念视频
Tumor Progression
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Loss of Tumor Suppressor Gene Functions
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
Loss of Tumor Suppressor Gene Functions
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...


