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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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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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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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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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Related Experiment Video

Updated: Jul 27, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

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Association of genetic polymorphisms in the

Ni Liu1, Min Liu1,2, Jun Yang1,3

  • 1Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming, Yunnan, China.

Frontiers in Cellular and Infection Microbiology
|June 9, 2023
PubMed
Summary

Genetic variations in the C19orf66 gene are linked to Hepatitis B virus (HBV) infection and its severity. This study identifies specific C19orf66 gene polymorphisms associated with HBsAg-positive status and biochemical markers in HBV patients.

Keywords:
HBV infectionbiochemical indicesfunctional assaygenetic polymorphismsthe C19orf66 gene

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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Area of Science:

  • Genetics
  • Hepatology
  • Virology

Background:

  • Hepatitis B virus (HBV) infection is a global health concern causing severe liver disease.
  • Current treatments for HBV infection are limited, highlighting the need for novel therapeutic targets.
  • Interferon-stimulated genes (ISGs), including C19orf66 with its broad antiviral activity, are crucial in host defense against viruses.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in the C19orf66 gene and Hepatitis B virus (HBV) infection.
  • To explore the potential functional impact of these C19orf66 gene polymorphisms on HBV infection and related biochemical markers.

Main Methods:

  • Genotyping and sequencing of three SNPs within the C19orf66 gene in HBV patients and healthy controls.
  • Dual-luciferase reporter assays to predict and verify the functional effects of the identified SNPs.
  • Statistical analysis to compare genotype and allele frequencies between different patient groups and controls.

Main Results:

  • Significant differences in genotype and allele frequencies of C19orf66 SNPs were observed between HBsAg-positive HBV patients and HBsAg-negative individuals or controls.
  • Specific genotypes (e.g., AA of rs77076061, AG of rs1979262) and alleles (e.g., A of rs1979262) showed significant associations with HBsAg-positive status and played risk or protective roles.
  • Associations were also identified between C19orf66 gene polymorphisms and biochemical indices such as ALT, AST, and DBIL levels.
  • Functional assays indicated that SNPs may influence C19orf66 gene expression by altering transcriptional factor binding.

Conclusions:

  • The study establishes a link between genetic variations in the C19orf66 gene and HBV infection, as well as biochemical markers in patients.
  • These findings represent the first identification of associations between C19orf66 gene polymorphisms and HBV infection in Yunnan Province.
  • The identified SNPs may serve as potential biomarkers for HBV infection severity or progression.