High-risk Genotypes

High-risk genotypes are genetically distinct pathogen strains associated with an increased likelihood of persistent infection, tissue damage, or disease progression. In the context of human papillomavirus (HPV), high-risk types can evade immune clearance and, during persistent infection, express viral oncoproteins such as E6 and E7 that disrupt the tumor-suppressor pathways governed by p53 and retinoblastoma protein. Identifying these genotypes supports infection risk assessment, cervical cancer screening, vaccination strategies, and epidemiological surveillance. Their study also clarifies how pathogen variation influences host immunity, disease outcomes, and prevention priorities.

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JoVE Science Education - Advanced Biology
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SNP Genotyping

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2023

Single nucleotide polymorphisms, or SNPs, are the most common form of genetic variation in humans. These differences at individual bases in the DNA often do not directly affect gene expression, but in many cases can still be useful for locating disease-associated genes or for diagnosing patients. Numerous methodologies have been established to identify, or “genotype”, SNPs.JoVE’s introduction to SNP Genotyping begins by discussing what SNPs are and how they can be used to identify...

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JoVE Science Education - Basic Biology

Mouse Genotyping

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2023

Even though the human genome was mapped over 10 years ago, scientists are still far from understanding the function of every human gene! One way to evaluate how a gene functions is to disrupt the sequence encoding it and then evaluate the impact of this change (the phenotype) on the animal’s biology. This approach is commonly used in the mouse (Mus musculus), since it shares a high degree of genetic similarity with humans. To track the animals bearing genetic changes over several generations,...

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JoVE Journal - Biology
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Genotyping of Plant and Animal Samples without Prior DNA Purification

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Cited by 14 •

2012

The Direct PCR approach presented here facilitates PCR amplification directly from small amounts of unpurified plant and animal tissue.

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JoVE Journal - Biology
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Pyrosequencing: A Simple Method for Accurate Genotyping

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Cited by 22 •

2008

Pyrosequencing(R) is one of the most thorough yet simple methods to date used to analyze polymorphisms. This method has led to rapid and efficient single-nucleotide polymorphism evaluation including many clinically relevant polymorphisms. The technique and methodology of Pyrosequencing is explained.

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JoVE Journal - Biology
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Infinium Assay for Large-scale SNP Genotyping Applications

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Cited by 15 •

2013

A protocol is described that uses Illumina's Infinium assays to perform large-scale genotyping. These assays can reliably genotype millions of SNPs across hundreds of individual DNA samples in three days. Once generated, these genotypes can be used to check for associations with a variety of different diseases or phenotypes.

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