US 2008/0076130 A1 · MOLECULAR HAPLOTYPING OF GENOMIC DNA

Abstract

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.

Claims22

Dependent claims

A method of determining the haplotype structures of a nucleic acid comprising two or more single nucleotide polymorphisms (SNPs) of interest, wherein said SNPs of interest comprise different alleles, comprising:

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;
wherein said one allelic variant is an enriched allelic variant and the other allelic variant is a non-enriched allelic variant;
and
genotyping the enriched nucleic acid fraction to identify the alleles in said 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.

1 more element

A method of determining the haplotype structures of two allelic variants of a chromosome or chromosomal fragment comprising two or more single nucleotide polymorphisms (SNPs) of interest, wherein said SNPs of interest comprise different alleles, said method comprising:

preferentially extracting one of said two allelic variant from an original nucleic acid sample comprising said two allelic variants of said chromosome of chromosomal fragment to provide an enriched sample in which the level of the preferentially extracted allelic variant is from 2 to 30 times greater than the level of the allelic variant that is not preferentially extracted from the sample;
PCR amplifying the enriched sample to proportionately increase the level of the allelic variant that is preferentially extracted from the sample and the level of the allelic variant that is not preferentially extracted from the sample;
and
identifying the alleles of the SNPs of interest that are present at higher levels in the amplified enriched sample and are located on the allelic variant that is preferentially extracted from the original nucleic acid sample;
and
identifying the alleles of the SNPs of interest that are present at lower levels in the amplified enriched sample and are located on the allelic variant that is not preferentially extracted from the original nucleic acid sample.

3 more elements

Dependencies are inferred from the claim text.

Molecular haplotyping of genomic dna

Life of this patent

Molecular haplotyping of genomic dna

Life of this patent

Abstract

Claims22