Converting diploidy to haploidy for genetic diagnosis

Details Converting diploidy to haploidy for genetic diagnosis Converting diploidy to haploidy for genetic diagnosis

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01) C12N 5/16 (2006.01) C12N 5/26 (2006.01) C12N 15/06 (2006.01)

Patent

CA 2386181

Detection of mutations associated with hereditary diseases is complicated by the diploid nature of mammalian cells. Mutations present in one allele are often masked by the wild-type sequence of the other allele. Individual alleles can be isolated from every chromosome within somatic cell hybrids generated from a single fusion. Nucleic acids from the hybrids can be analyzed for mutations in an unambiguous manner. This approach was used to detect two cancer-causing mutations that had previously defied genetic diagnosis. One of the families studied, Warthin Family G, was the first kindred with a hereditary colon cancer syndrome described in the biomedical literature.

La détection de mutations associées à des maladies héréditaires est compliquée du fait de la nature diploïde des cellules mammifères. Les mutations présentes dans un allèle sont souvent masquées par la séquence de type sauvage de l'autre allèle. Les allèles individuels peuvent être isolés à partir de chaque chromosome à l'intérieur de cellules hybrides somatiques issues d'une simple fusion. On peut soumettre les acides nucléiques de ces cellules hybrides à une analyse visant à rechercher des mutations d'une manière non ambiguë. Cette approche a permis de détecter deux mutations cancérogènes qui auparavant échappaient au diagnostic génétique. L'une des familles étudiées, nommée Warthin Family G, était la première parenté décrite dans la littérature biomédicale à présenter un syndrome du cancer du colon héréditaire.

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