基因变异与增加原发性黑色素瘤厚度有关
Elizabeth Córdoba-Lanús1,2, Omar García-Pérez1,2, Leticia Melgar-Vilaplana3
1Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias (IUETSPC), Universidad de La Laguna, Avda. Astrofísico Sánchez, s/n, 38296 San Cristóbal de La Laguna, Spain.
Biomolecules
|April 30, 2025
概括
在PDCD1LG1基因中的某些单核酸多态 (SNP) 与恶性黑色素瘤 (MM) 侵入性和厚度的增加有关. 这些遗传标记可能会影响黑色素瘤瘤的特征,但不会影响生存结果.
科学领域:
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
- 皮肤病学 皮肤病学
背景情况:
- 恶性黑色素瘤 (MM) 发病率正在上升,瘤的侵入性是关键的预后因素.
- 单核酸多态性 (SNP) 对于理解癌症遗传学至关重要,影响易感性和预后.
研究的目的:
- 研究PDCD1LG1基因中的特定SNP与恶性黑色素瘤侵袭性和预后之间的关联.
- 分析五个PDCD1LG1基因SNP (rs822336,rs822337,rs822338,rs2297136,rs4143815) 与MM患者的瘤特征之间的关系.
主要方法:
- 从377个MM个体的全血样本中分析PDCD1LG1基因中的五个SNP.
- 在RS822336,RS822337,RS822338,RS2297136和RS4143815SNP中进行基因造型.
- 统计分析以确定SNP基因型与瘤侵入性,厚度,黑色素瘤特异性存活率 (MSS) 和无进展存活率 (PFS) 之间的关联.
主要成果:
- 特定的rs822336,rs822337和rs822338基因型与侵袭性黑色素瘤的风险增加有关.
- 在rs2297136中,AG或GG基因型与侵袭性MM的风险较低有关,AA基因型与较厚的瘤有关.
- 研究的SNP与黑色素瘤特异性存活率 (MSS) 或无进展存活率 (PFS) 之间没有发现显著的关联.
结论:
- 在PDCD1LG1基因中的SNPsrs822336,rs822337,rs822338和rs2297136与恶性黑色素瘤中的瘤侵入性和厚度有关.
- 这些发现强调了特定遗传变异在MM瘤进展中的作用.
- 需要进一步的研究,包括遗传和表观遗传因素,以充分了解MM易感性和预后.
相关概念视频
Mutations
77.4K
Overview
77.4K
Genomic Imprinting and Inheritance
33.0K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
33.0K
Mismatch Repair
4.7K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
4.7K
In-vitro Mutagenesis
13.6K
To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
13.6K
Gene Conversion
9.6K
Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
9.6K
Cancer-Critical Genes I: Proto-oncogenes
8.6K
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...
8.6K


