Dinucleotide repeat polymorphism in the third intron of the NRAMP2/DMT1 gene
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Updated: Aug 9, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
F Kishi1, S Fujishima, M Tabuchi
1Center for Gene Research, Yamaguchi University, Japan. fkishi-ygc@umin.ac.jp
Abstract:
Nramp1 (natural resistance-associated macrophage protein 1), encoding a polytropic integral membrane protein, was isolated as a candidate of the mouse Lsh/Ity/Bcg locus, which regulates macrophage activation for anti-microbial activity against intracellular pathogens. The NRAMP2 gene was cloned from human genome as a homologue of NRAMP1. We found a polymorphic dinucleotide repeat in the third intron of the NRAMP2 gene. This polymorphism will be a useful genetic marker to study disease associated with susceptibility to infection with intracellular pathogens.
Insights
Researchers identified a genetic marker in the NRAMP2 gene, a homologue of Nramp1. This polymorphism may help study diseases linked to susceptibility to intracellular pathogens.
Area of Science:
- Genetics
- Immunology
- Molecular Biology
Background:
- Natural resistance-associated macrophage protein 1 (Nramp1) regulates macrophage antimicrobial activity.
- Nramp1 is a candidate gene for the mouse Lsh/Ity/Bcg locus, influencing innate immunity.
- Intracellular pathogens pose significant health challenges, necessitating research into host susceptibility factors.
Purpose of the Study:
- To clone and characterize the human homologue of Nramp1, designated NRAMP2.
- To identify genetic variations within the NRAMP2 gene.
- To evaluate the potential of identified variations as genetic markers for infectious disease susceptibility.
Main Methods:
- Cloning of the human NRAMP2 gene from the human genome.
- Analysis of the NRAMP2 gene sequence, specifically focusing on intronic regions.
- Identification and characterization of polymorphic DNA repeats within the NRAMP2 gene.
Main Results:
- The NRAMP2 gene, a homologue of Nramp1, was successfully cloned from the human genome.
- A polymorphic dinucleotide repeat was identified in the third intron of the NRAMP2 gene.
- This polymorphism represents a novel genetic marker within the NRAMP2 gene.
Conclusions:
- The identified NRAMP2 dinucleotide repeat polymorphism is a valuable genetic marker.
- This marker can be utilized in future studies to investigate the genetic basis of susceptibility to intracellular pathogens.
- Understanding NRAMP2 variations may contribute to developing strategies for managing infectious diseases.
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