Low Concentration Allele Detection

Low Concentration Allele Detection is the identification of specific genetic variants when the target allele occurs at very low abundance within a sample, a challenge that can reveal minor pathogen populations or immune-related genetic differences. It works by selectively amplifying or enriching the target sequence and distinguishing its allele-specific signal from the predominant background sequence, often through targeted molecular assays, probe-based detection, or sensitive sequencing. In immunology and infection research, this approach supports early detection of low-level infections, characterization of mixed pathogen populations, tracking emerging variants, and analysis of rare host alleles that may influence susceptibility, immune response, or treatment outcomes.

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Education

JoVE Core - Molecular Biology

Multiple Allele Traits

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2021

For the same gene multiple alleles can interact to influence phenotypes like the shape and protein composition of an individual cells.By studying allele interactions on the molecular and cellular levels researchers can understand the resulting phenotypes and complications of human conditions like sickle cell trait, improving treatment.The ABO blood group system is a common example of multiple alleles in humans. This system includes three alleles called IA, IB, and i alleles, which combine in...

Multiple Allele Traits

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2026

For the same gene multiple alleles can interact to influence phenotypes like the shape and protein composition of an individual cells.By studying allele interactions on the molecular and cellular levels researchers can understand the resulting phenotypes and complications of human conditions like sickle cell trait, improving treatment.The ABO blood group system is a common example of multiple alleles in humans. This system includes three alleles called IA, IB, and i alleles, which combine in...

Lethal Alleles

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2021

Agouti: A Lethal Allele Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

Research

JoVE Journal - Biology
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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

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Cited by 2 •

2010

Genetic associations often remain unexplained at a functional level. This method aims to assess the effect of phenotype-associated genetic markers on gene expression by analyzing cells heterozygous for transcribed SNPs. The technology allows accurate measurement by MALDI-TOF mass spectrometry to quantify allele-specific primer extension products.

Research

JoVE Journal - Medicine
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Utilizing Murine Inducible Telomerase Alleles in the Studies of Tissue Degeneration/Regeneration and Cancer

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Cited by 3 •

2015

Telomere and telomerase play essential roles in ageing and tumorigenesis. The goal of this protocol is to show how to generate two murine inducible telomerase knock-in alleles and how to utilize them in the studies of tissue degeneration/regeneration and cancer.

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