Methods for gene mapping and haplotyping

Details Methods for gene mapping and haplotyping Methods for gene mapping and haplotyping

G - Physics

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G01N 33/48 (2006.01) C12N 15/10 (2006.01) C12N 15/11 (2006.01) G01N 33/483 (2006.01) G01N 37/00 (2006.01)

Patent

CA 2632859

The present invention is directed to methods for providing a definitive haplotype of a subject. The haplotype information generated by the methods described herein is more accurate than that provided by prior art methods that only give an inferred haplotype. Accordingly, in one aspect the present invention provides a method for determining a definitive haplotype of a subject the method including the steps of providing a substantially isolated haploid element from the subject, and obtaining nucleotide sequence information from the haploid element. Applicants propose that the use of a substantially isolated haploid element eliminates the problem of incorrect or misleading inferences concerning the phase of two or more loci within a haplotype, and allows for revelation of two or more participatory genes within a haplotype, uncomplicated by differences in modes of inheritance. The guarantee of strictly cis-phase associations is provided in the present methods by the use of a substantially isolated haploid element as starting material for sequence analysis.

Procédés permettant d'établir un haplotype définitif d'un sujet. Les informations haplotypiques obtenues par les procédés de l'invention sont plus précises que celles obtenues par les procédés de la technique antérieure qui reposent sur des techniques de déduction d'un haplotype. Selon un aspect, l'invention concerne donc un procédé permettant de déterminer avec certitude un haplotype d'un sujet, comprenant les étapes consistant à isoler sensiblement un élément haploïde d'un sujet et à en extraire des informations relatives à une séquence de nucléotides. L'utilisation d'un élément haploïde sensiblement isolé élimine les risques de conclusions erronées ou fallacieuses concernant la phase d'au moins deux loci au sein d'un haplotype, et permet de révéler au moins deux gènes contributeurs au sein d'un haplotype, sans complications liées au déterminisme génétique. Les procédés de l'invention garantissent des associations exclusivement en position cis du fait de l'utilisation d'un élément haploïde sensiblement isolé comme matière de départ pour l'analyse séquentielle.

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