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ENZYMATIC DEFECT [1 record]

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Record 1 2003-04-17

English

Subject field(s)
  • Biochemistry
  • Genetics
OBS

The method to detect mutations or genetic damage in cells was an assay of cloned HPRT-Human T-lymphocytes. This method offers the advantage that mutant cells survive and yield offspring and thus mutation is no longer represented by a single dead cell but by a population of cells whose enzymatic defect can be confirmed, studied and characterized.

French

Domaine(s)
  • Biochimie
  • Génétique
OBS

On connaît de nombreuses maladies génétiques humaines dans lesquelles un enzyme est soit totalement inactif soit altéré dans sa fonction catalytique ou régulatrice. Dans ces maladies, la molécule enzymatique défectueuse peut contenir un ou plusieurs aminoacides anormaux dans sa (ses) chaîne(s) (polypeptidiques(s) comme résultat d'une mutation du DNA.

Spanish

Campo(s) temático(s)
  • Bioquímica
  • Genética
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