[Molecular diagnosis of hereditary diseases]

Rev Med Brux. 1995 May-Jun;16(3):113-6.
[Article in French]


Molecular biology has produced important achievements in research, and provides useful applications to the clinical field. This is true today in diagnostics, and will be true in therapeutics tomorrow. The identification of pathogenic mutations through direct analysis of known genes allows diagnoses to be reached in a growing number of disorders. When mutations cannot be identified, familial linkage studies using polymorphic molecular markers will reach a diagnosis indirectly, most of the times. This is useful either presymptomatically or prenatally. The identification of genetic risk factors in targeted populations is becoming a means of prevention of multifactorial diseases. This approach opens a very large field of applications of molecular genetics in clinical practice. Basic concepts of molecular genetics are briefly reviewed, and the principles of diagnostics in hereditary diseases are approached via a few representative examples.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Adenomatous Polyposis Coli / genetics
  • Cystic Fibrosis / genetics
  • Female
  • Genetic Diseases, Inborn / genetics*
  • Genetic Techniques*
  • Genetics, Medical
  • Humans
  • Male
  • Muscular Dystrophies / genetics
  • Point Mutation