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Related Concept Videos

Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...

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Related Experiment Video

Updated: Jun 3, 2026

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
10:41

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Published on: March 29, 2017

Sequence-specific priming as a rapid screen for known mutations.

M Carrington1

  • 1NCI-FCRDC, Frederick, MD.

Methods in Molecular Medicine
|March 8, 2011
PubMed
Summary
This summary is machine-generated.

Genetic variations like CCR5△32 and CCR2-64I influence disease susceptibility. Certain gene alleles, such as CCR5△32, offer protection against HIV-1 infection and disease progression.

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Last Updated: Jun 3, 2026

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
10:41

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Published on: March 29, 2017

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions
08:23

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions

Published on: September 25, 2018

Area of Science:

  • Genetics
  • Immunology
  • Infectious Diseases

Background:

  • Genetic mutations can alter protein function, leading to diseases.
  • Some genetic variations, however, can confer protection against certain diseases.
  • The CCR5 chemokine receptor gene and its CCR5△32 allele are key examples.

Purpose of the Study:

  • To explore the role of specific genetic variations in disease protection.
  • To highlight the impact of CCR5△32 and CCR2-64I alleles on HIV-1 infection and AIDS progression.

Main Methods:

  • Review of existing literature on gene mutations and disease states.
  • Analysis of the CCR5△32 allele's effect on HIV-1 susceptibility.
  • Examination of the CCR2-64I variant's association with AIDS progression.

Main Results:

  • The CCR5△32 allele, resulting in a non-functional CCR5 protein, confers significant protection against HIV-1 infection.
  • Individuals homozygous for CCR5△32 are highly resistant to HIV-1.
  • The CCR2-64I allele is linked to delayed progression to Acquired Immunodeficiency Syndrome (AIDS) post-HIV-1 infection.

Conclusions:

  • Specific genetic alterations in chemokine receptor genes can modulate susceptibility and progression of infectious diseases like HIV-1.
  • Understanding these genetic factors is crucial for developing targeted therapeutic and preventative strategies.