Genetic analysis

Details Genetic analysis Genetic analysis

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01)

Patent

CA 2362771

A method is described for use in whole genome analysis. The method - termed inter-population perfectly matched duplex depletion - can overcome many of the limitations of current approaches based upon SNPs and linkage disequilibrium within isolated populations. Inter-population perfectly matched duplex depletion isolates a fragment (or fragments) containing differences between the "affected" and "unaffected" populations or cells. A convenient method - terminal restriction site profiling arrays (TRSPAs) - is described for the analysis of such fragments. A totally diagnostic internal control DNA is also described which allows both the extent and exact nature of any partial digestion to be unambiguously determined for inter-population perfectly matched duplex depletion or TRSPA restriction.

L'invention concerne une technique d'analyse portant sur le génome complet. Cette technique, appelée déplétion en duplex à mésappariements parfaits inter-population, peut surmonter de nombreuses limitations des approches courantes basées sur les SNP et sur le déséquilibre de liaison au sein de populations isolées. La déplétion en duplex à mésappariements parfaits inter-population consiste à isoler un ou plusieurs fragments présentant des différences entre populations ou cellules <= touchées >= et <= non touchées >=. L'invention concerne une technique pratique - la matrice différentielle d'établissement de profils de sites de restriction terminaux (TRSPA) - pour l'analyse de tels fragments. L'invention concerne également un ADN de régulation interne totalement diagnostique permettant de déterminer sans ambiguïtés l'étendue et la nature exacte de toute digestion partielle pour la déplétion en duplex contenant des mésappariements parfaits inter-population et les restrictions TRSPA.

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