在Li-Fraumeni综合征中的p53生殖系突变
M F Santibáñez-Koref1, J M Birch, A L Hartley
1CRC Department of Cancer Genetics, Paterson Institute.
Lancet (London, England)
|December 14, 1991
概括
在p53基因的生殖系突变与Li-Fraumeni综合征 (LFS) 有关. 然而,这项研究在8个LFS家族中只有2个发现了p53突变,这表明它.
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:
- 李-弗劳梅尼综合征 (LFS) 是一种罕见的遗传性癌症倾向综合征.
- 在p53瘤抑制基因的生殖系突变与LFS有关.
- 涉及LFS的p53基因的特定区域需要进一步调查.
研究的目的:
- 为了调查p53基因突变在患有Li-Fraumeni综合征的家庭中受影响的个体中的存在.
- 为了确定LFS家族队列中的p53突变的频率.
- 在LFS中识别p53基因中的潜在突变热点.
主要方法:
- 直接测序p53基因的定义区域.
- 对8个LFS家族中受影响个体的生殖基因DNA进行分析.
主要成果:
- 在8个研究的LFS家族中,只有2个发现了p53基因突变.
- 在p53基因中的codon248的cpG二核酸中确认了一个突变热点.
- 这些发现表明,p53突变并不是所有受影响家族中LFS的唯一原因.
结论:
- 在一些,但不是所有的Li-Fraumeni综合征家族中,p53基因突变可能是主要的遗传病变.
- 在评估LFS风险和提供遗传咨询时,应谨慎考虑p53突变的存在.
- 需要进一步的研究来确定其他导致LFS的遗传因素.
相关概念视频
Abnormal Proliferation
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
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...
Cancer-Critical Genes II: Tumor Suppressor Genes
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
DNA Damage Can Stall the Cell Cycle
In response to DNA damage, cells can pause the cell cycle to assess and repair the breaks. However, the cell must check the DNA at certain critical stages during the cell cycle. If the cell cycle pauses before DNA replication, the cells will contain twice the amount of DNA. On the other hand, if cells arrest after DNA replication but before mitosis, they will contain four times the normal amount of DNA. With a host of specialized proteins at their disposal,cells must use the right protein at...
Cancer-Critical Genes II: Tumor Suppressor Genes
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
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...


