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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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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Overview
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Related Experiment Video

Updated: Aug 7, 2025

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
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CYP2C19 gene polymorphism in Ningxia.

Zhen Yang1, Yunqian Xie2,3, Daya Zhang4

  • 1Department of Infectious Disease, People's Hospital of Ningxia Hui Autonomous Region, Yinchuan, China.

Pharmacological Reports : PR
|March 13, 2023
PubMed
Summary

CYP2C19 gene variations do not appear to influence Helicobacter pylori infection susceptibility in healthy individuals. However, regional differences in CYP2C19*17 allele frequency were noted between ethnic groups in Ningxia.

Keywords:
CYP2C19H. pyloriInfectious diseasePolymorphism

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Area of Science:

  • Pharmacogenomics
  • Microbiology
  • Genetic Epidemiology

Background:

  • Poor metabolizer (PM) status of CYP2C19 is linked to gastric cancer in H. pylori-infected individuals.
  • The role of CYP2C19 PM status in H. pylori infection susceptibility in healthy populations remains unclear.

Purpose of the Study:

  • To investigate the potential correlation between CYP2C19 gene polymorphisms and H. pylori infection susceptibility.
  • To examine regional and ethnic variations in CYP2C19 allele and genotype frequencies.

Main Methods:

  • High-throughput sequencing was used to identify single nucleotide polymorphisms (SNPs) in CYP2C19 (rs4244285, rs4986893, rs12248560).
  • CYP2C19 genotypes of 1050 subjects from Ningxia were determined.
  • Statistical analyses (χ2 tests) were employed to evaluate correlations between H. pylori status, CYP2C19 polymorphisms, and demographic factors.

Main Results:

  • The frequency of the CYP2C19*17 allele and specific genotypes (CYP2C19*1/*17, CYP2C19*3/*17) was significantly higher in the Hui ethnic group compared to the Han group in Ningxia.
  • No significant differences in allele or genotype frequencies were observed between H. pylori-positive and H. pylori-negative groups.
  • Body Mass Index (BMI) did not show a significant association with CYP2C19 allele or genotype frequencies.

Conclusions:

  • Significant regional differences in CYP2C19*17 distribution exist, with higher prevalence in the Hui population of Ningxia.
  • CYP2C19 gene polymorphism is not associated with susceptibility to H. pylori infection in the studied population.