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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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A decreasing function describes a relationship where the output consistently declines as the input increases. This means that for any two input values, if one is greater than the other, the corresponding output is smaller. Mathematically, a function f is decreasing on an interval I if for every x1 < x2​ in I, f (x1) > f (x2). This type of behavior is visually identified on a graph that slopes downward from left to right.The nature of a function can be analyzed by calculating...
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DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
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A decreased body temperature can occur in patients with hypothermia and frostbite. Heat loss with extended cold exposure overpowers the body's ability to create heat, resulting in hypothermia. Core temperature readings help classify hypothermia. Mild hypothermia is temperatures between 32 °C (89.6 °F) and 35°C (95 °F) and is caused by impaired thermoregulation. Moderate hypothermia is temperatures between 28 C (82.4 °F) and 32 °C (89.6 °F) caused by...
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Bradycardia is a medical condition in which the heart rate is slower than normal. It occurs when the heart's natural pacemaker, the sinus node, generates slower electrical impulses than the standard rhythm. In adults, bradycardia is diagnosed when the pulse rate falls below 60 beats per minute, indicating a deviation from the normal heart rate range.
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Related Experiment Video

Updated: Jan 23, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
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Single Nucleotide Polymorphisms of CBX4 and CBX7 Decrease the Risk of Hepatocellular Carcinoma.

Chao Tan1, Chunhua Bei1, Xiaonian Zhu1

  • 1Department of Epidemiology and Statistics, School of Public Health, Guilin Medical University, Guilin, Guangxi 541004, China.

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|June 19, 2019
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Summary

Single nucleotide polymorphisms (SNPs) in CBX4 and CBX7 genes may protect against hepatocellular carcinoma (HCC). These protective SNPs, rs2289728 and rs139394, appear to reduce HCC risk by suppressing CBX4 and CBX7 gene expression.

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Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Chromobox (CBX) proteins, also known as Polycomb (Pc) proteins, are key components of the Polycomb repressive complex 1 (PRC1).
  • Aberrant expression of Pc proteins is linked to various cancers, but their specific role in hepatocellular carcinoma (HCC) pathogenesis requires further investigation.
  • This study explores the association between single nucleotide polymorphisms (SNPs) in CBX genes and HCC risk.

Purpose of the Study:

  • To investigate the relationship between specific SNPs in CBX genes and the risk of developing hepatocellular carcinoma (HCC).
  • To analyze the impact of identified SNPs on the expression levels of their corresponding CBX genes.
  • To evaluate potential interactions between SNPs and other factors, such as HBsAg, in influencing HCC risk.

Main Methods:

  • A case-control study was conducted with 334 HCC cases and 321 controls.
  • Nine SNPs across CBX2, CBX4, CBX6, and CBX7 genes were genotyped using MassARRAY technology.
  • Bioinformatics tools, including Ensembl and Blood eQTL browser, were used to analyze SNP-gene expression associations.

Main Results:

  • The study identified rs2289728 in CBX4 and rs139394 in CBX7 as significantly associated with decreased HCC risk (OR=0.56 and OR=0.55, respectively).
  • An interaction between rs2036316 and HBsAg was found to increase HCC risk (OR=6.88), while an SNP-SNP interaction between rs710190 and rs139394 reduced risk (OR=0.33).
  • Gene expression analysis revealed that the A alleles of rs2289728 and rs139394 significantly decreased CBX4 and CBX7 expression, respectively.

Conclusions:

  • CBX4 rs2289728 and CBX7 rs139394 are identified as protective SNPs against hepatocellular carcinoma (HCC).
  • These protective effects are potentially mediated by the suppression of CBX4 and CBX7 gene expression.
  • The findings contribute to understanding the genetic factors influencing HCC development and suggest potential biomarkers.