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Introduction a la genetique moleculaire

Introduction to molecular genetics

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Following overviews of the structure of DNA, the organization of the human genome, and a description of the process of gene transcription, the second part of this review considers the principal molecular biological tools used to study genetic anomalies. Significant progress in molecular genetics during recent years and has led to the discovery of many new gene loci, greatly expanding the human gene map. Restriction fragment length polymorphism and enzymatic amplification studies are now routinely applied in the diagnosis of an ever increasing number of genetic diseases. Finally, elucidation of the molecular mechanisms of gene transcription facilitate the study of regulatory factors of gene expression.


Après un rappel succinct de la structure de l’ADN et de l’organisation du génome humain, les principales étapes de la transcription génique sont décrites. Dans une seconde partie, sont abordés les principaux outils de la biologie moléculaire utilisés pour l’étude des anomalies de l’information. L’utilisation des polymorphismes de restriction et l’amplification de régions spécifiques des gènes permettent l’enrichissement constant de la carte génétique chez l’homme par la découverte et la localisation de nouveaux gènes, et sont désormais appliquées au diagnostic génétique d’un nombre toujours plus grand de maladies. Enfin, l’élucidation des mécanismes moléculaires de la transcription génique ont ouvert la voie à l’étude des facteurs régulant l’expression des gènes.


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Correspondence to Jean -Marc Lobaccaro.

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Lobaccaro, J.-., Lumbroso, S. & Sultan, C. Introduction a la genetique moleculaire. Androl. 2, 104–107 (1992).

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Key Words

  • molecular genetics
  • gene transcription
  • polymorphisms
  • gene expression
  • screening for mutations


  • génétique moléculaire
  • transcription génique
  • polymorphismes
  • recherche de mutations
  • expression génique