Mitochondrial dna sequence alleles

C - Chemistry – Metallurgy – 12 – N

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C12N 15/11 (2006.01) C07H 21/04 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2356536

This invention provides human mitochondrial DNA polymorphisms that are diagnostic of all the major human haplogroups and methods of diagnosing those haplogroups and selected sub- haplogroups. This invention provides sets of nucleic acid molecules containing human mtDNA polymorphisms. This invention provides sets of nucleic acid molecules containing human mtDNA polymorphisms formatted as nucleic acid arrays. This invention also provides methods for making the nucleic acid arrays, using the arrays to determine the presence or absence of a nucleotide allele in a sample, and methods for identifying a nucleic acid allele associated with a disease phenotype. This invention provides machine-readable storage devices containing data associating haplogroups and nucleic acid alleles and program storage devices for diagnosing a haplogroup.

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