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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
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Comparing Copy Number Variations and SNPs02:26

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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%...
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Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Symbiosis00:58

Symbiosis

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Symbiotic relationships are long-term, close interactions between individuals of different species that affect the distribution and abundance of those species. When a relationship is beneficial to both species, this is called mutualism. When the relationship is beneficial to one species but neither beneficial nor harmful to the other species, this is called commensalism. When one organism is harmed to benefit another, the relationship is known as parasitism. These types of relationships often...
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Exon Recombination02:32

Exon Recombination

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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...
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Genetic Lingo01:11

Genetic Lingo

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Overview
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Updated: Jan 17, 2026

Methods to Investigate the Regulatory Role of Small RNAs and Ribosomal Occupancy of Plasmodium falciparum
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Human genetic variations conferring resistance to malaria.

Xiaokun Zhang1, Jie Wu2, Yunxing Peng3

  • 1Functional Laboratory of Experimental Teaching Center, Faculty of Basic Medical Science, Kunming Medical University, Kunming, 650500, Yunnan, People's Republic of China.

Journal of Translational Medicine
|September 24, 2025
PubMed
Summary

Human genetics reveal natural resistance to malaria. Key genetic variations like sickle cell trait and G6PD deficiency offer protection, influencing disease epidemiology and control strategies.

Keywords:
EvolutionaryG6PD deficiencyGenetic variationsHemoglobinopathyMalaria resistanceThalassemia

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Area of Science:

  • Human genetics
  • Evolutionary biology
  • Infectious disease epidemiology

Background:

  • Malaria poses a significant global health threat, especially in tropical/subtropical areas.
  • Natural selection pressures from malaria have driven human genetic adaptations for disease resistance.
  • Understanding these genetic variations is key to combating malaria.

Purpose of the Study:

  • To review key genetic variations conferring resistance to malaria.
  • To explore the interplay between human genetics and malaria.
  • To highlight the importance of these adaptations in malaria control.

Main Methods:

  • Literature review of genetic variations associated with malaria resistance.
  • Analysis of hemoglobinopathies (sickle cell trait, thalassemia).
  • Examination of G6PD deficiency, blood group polymorphisms, and immune-related genetic variants.

Main Results:

  • Identified key genetic variations including hemoglobinopathies, G6PD deficiency, and blood group polymorphisms.
  • Observed geographic variation in prevalence of these adaptations, correlating with historical malaria burden.
  • Highlighted incomplete understanding of protective mechanisms and gene-environment interactions.

Conclusions:

  • Genetic variations significantly impact malaria resistance and human evolution.
  • Further research into functional implications is crucial for diagnostics and targeted interventions.
  • Comprehensive understanding aids global malaria eradication efforts.