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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Exon Recombination02:32

Exon Recombination

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. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
Microbiota of the Respiratory Tract01:29

Microbiota of the Respiratory Tract

The human respiratory tract, comprising the upper and lower segments, serves as a critical interface with the external environment. The upper respiratory tract (URT)—including the nostrils, sinuses, pharynx, and oropharynx—is heavily colonized by microbes, while the lower respiratory tract (LRT), composed of the larynx, trachea, bronchi, and lungs, was long thought to be sterile. However, recent molecular studies have revealed that the lungs are not devoid of microbes but act more like...

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Related Experiment Video

Updated: May 23, 2026

Noninvasive Sampling of Mucosal Lining Fluid for the Quantification of In Vivo Upper Airway Immune-mediator Levels
05:31

Noninvasive Sampling of Mucosal Lining Fluid for the Quantification of In Vivo Upper Airway Immune-mediator Levels

Published on: August 7, 2017

Innate immunity gene single nucleotide polymorphisms and otitis media.

Sarah R Carroll1, Philip B Zald, Zachary M Soler

  • 1ENT Surgical Associates, Glendale, CA, United States.

International Journal of Pediatric Otorhinolaryngology
|April 13, 2012
PubMed
Summary

Single nucleotide polymorphisms (SNPs) in toll-like receptor (TLR) genes were investigated in children with recurrent otitis media. Researchers found no increased prevalence of specific TLR gene SNPs in otitis-prone children compared to controls.

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Published on: June 14, 2020

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Last Updated: May 23, 2026

Noninvasive Sampling of Mucosal Lining Fluid for the Quantification of In Vivo Upper Airway Immune-mediator Levels
05:31

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Published on: August 7, 2017

Isolation of Tonsillar Mononuclear Cells to Study Ex Vivo Innate Immune Responses in a Human Mucosal Lymphoid Tissue
07:38

Isolation of Tonsillar Mononuclear Cells to Study Ex Vivo Innate Immune Responses in a Human Mucosal Lymphoid Tissue

Published on: June 14, 2020

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Toll-like receptors (TLRs) are crucial for innate immune system activation.
  • Single nucleotide polymorphisms (SNPs) in TLR genes are associated with increased infection susceptibility.
  • TLR4 deficiency in mice correlates with higher rates and longer duration of otitis media.

Purpose of the Study:

  • To investigate the hypothesis that SNPs in toll-like receptor (TLR) genes are more common in otitis-prone children.
  • To compare the prevalence of specific TLR gene SNPs between children with and without a history of otitis media.

Main Methods:

  • A case-control study involving 70 children undergoing surgery for otitis media (cases) and 70 children undergoing surgery for non-otologic conditions (controls).
  • Genomic DNA was extracted from blood samples.
  • RT-PCR genotyping was performed for SNPs in TLR2, TLR4, TLR9, and CD14 genes.

Main Results:

  • No significant differences were observed between cases and controls regarding family history, daycare attendance, smoke exposure, allergies, or the prevalence of the studied SNPs.
  • Obstructive sleep apnea (OSA) was the most frequent pre-operative diagnosis in the control group.

Conclusions:

  • The study found no increased prevalence of SNPs in TLR2, TLR4, TLR9, and CD14 genes among children with a history of recurrent otitis media.
  • These findings suggest that common SNPs in these TLR genes may not be a significant risk factor for otitis-prone conditions in children.