Molecular haplotyping of genomic dna

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01)

Patent

CA 2518904

A method of determining the haplotype structures of a nucleic acid comprising two or more single nucleotide polymorphisms (SNPs) of interest is provided. The method comprises: obtaining an enriched nucleic acid fraction which comprises from 2 to 30 times more of one allelic variant of the nucleic acid than the other allelic variant of the nucleic acid; and genotyping the enriched nucleic acid fraction to identify the alleles in the two or more SNPs of interest that are present at a higher level or lower level than the other alleles in said two or more SNPs of interest, wherein the alleles that are present at a higher level are on the enriched allelic variant and form one haplotype and the alleles that are present at a lower level are on the non- enriched allelic variant and form the other haplotype. Kits for conducting the present methods are also provided.

L'invention concerne un procédé de détermination de structures d'haplotype d'un acide nucléique comprenant deux ou plus de deux polymorphismes de nucléotides simples visés. Le procédé comprend les étapes suivantes: préparation d'une fraction d'acides nucléiques enrichie qui renferme entre 2 à 30 fois en plus d'un variant allélique de l'acide nucléique par rapport à l'autre variant allélique de l'acide nucléique; et génotypage de cette fraction pour identifier les allèles dans les polymorphismes en question, présents à un niveau supérieur ou inférieur par rapport aux autres allèles dans lesdits polymorphismes, sachant que les allèles présents à un niveau supérieur se trouvent sur le variant allélique enrichi et forment un haplotype et que les allèles présents à un niveau inférieur se trouvent sur le variant allélique non enrichi et forment l'autre haplotype. L'invention concerne aussi des kits pour la mise en oeuvre des procédés considérés.

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