Mono-allelic mutation analysis for identifying germline...

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C12N 15/09 (2006.01) C12Q 1/25 (2006.01) G01N 33/50 (2006.01) G01N 33/543 (2006.01) G01N 33/68 (2006.01) C12N 15/08 (2006.01)

Patent

CA 2229558

A diagnostic strategy for detection of inherited diseases caused by germline mutations is based on somatic cell hybridization. Each allele of a human gene involved in the inherited disease is isolated in a somatic cell hybrid. The products of the isolated human allele are then observed in the absence of the other allele of the human.

L'invention concerne une stratégie diagnostique pour détecter des maladies héréditaires induites par la mutation de lignées germinales, basée sur l'hybridation de cellules somatiques. Chaque allèle d'un gène humain impliqué dans la maladie héréditaire recherchée est isolé dans une cellule somatique hybride. Les produits de l'allèle humain isolé sont alors observés en absence de l'autre allèle humain.

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