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AMPLIFICATION REFRACTORY MUTATION SYSTEM-PCR [1 record]

Record 1 1998-11-24

English

Subject field(s)
  • Genetics
CONT

The molecular basis of beta thalassemia in Lebanon has previously been studied in a sample of 25 homozygote individuals. The 25 individuals included in that study had all presented at the American University Hospital and, with the exception of one patient, were all of the Muslim religion. With the advent of PCR, new techniques for mutation screening have emerged, among them the Allele Refractory Mutation System (ARMS) based on allele-specific priming of the amplification reaction. We are currently applying this technique in our laboratory in order to screen a larger number of samples from heterozygote individuals, in an effort to complement the previous findings and study the distribution of mutations among different geographical regions and different religious groups...

French

Domaine(s)
  • Génétique
CONT

L'ARMS-PCR (amplification refractory mutation system) et la STR-PCR (single tandem repeat) occupent d'ores et déjà une place importante dans le diagnostic des maladies héréditaires et des cancers. Toutes les deux impliquent l'amplification par PCR de loci génomiques spécifiques grâce à l'utilisation d'amorces permettant de discriminer des mutations ponctuelles (ARMS-PCR) ou des répétitions en tandem localisées sur un locus particulier (STR-PCR).

OBS

Méthode d'analyse du génome à des fins diagnostiques.

Spanish

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