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Related Experiment Videos

[Human globin genes: what can we learn from their polymorphism?].

D Charmot-Bensimon1

  • 1Laboratoire de génétique et physiologie du développement, Centre universitaire de Marseille Luminy, France. bensimon@lgpd.univ-mrs.fr

Bulletin De La Societe De Pathologie Exotique (1990)
|November 26, 1999
PubMed
Summary

Extensive genetic variations in human alpha and beta globin genes explain the widespread distribution of sickle cell trait and thalassemia. Malaria endemicity correlates with these genetic disorders, though other factors like migration and genetic drift also influence their frequencies.

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Area of Science:

  • Human genetics
  • Molecular biology
  • Population genetics

Context:

  • Alpha and beta globin gene polymorphism is extensive worldwide.
  • Sickle cell trait and thalassemia are common monogenic disorders with complex distributions.
  • Their prevalence often correlates with historical malaria endemicity.

Purpose:

  • To explore the molecular basis and geographical distribution of alpha and beta thalassemia.
  • To investigate the role of natural selection, particularly malaria, in shaping allele frequencies.
  • To understand the interplay of mutation, migration, genetic drift, and selection in human genetic diversity.

Summary:

  • Beta-thalassemia arises from various mutations (substitutions, deletions, insertions), while alpha-thalassemia typically involves gene deletions.

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  • Both disorders exhibit heterogeneous and widespread distributions across the Old World, mirroring patterns of malarious regions.
  • While malaria is a strong candidate for selection, the exact mechanisms and influence of other evolutionary forces remain challenging to elucidate for specific mutations.

    • Impact:

    • Provides insights into the evolutionary forces driving genetic variations in globin genes.
    • Highlights the complex etiology of common monogenic disorders.
    • Informs future research on population genetics and the co-evolution of humans and infectious diseases.