Method for haplotyping by mass spectrometry
First Claim
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1. A method for the determination of the haplotype of an individual, comprising the steps of:
- d) genotyping of more than two single nucleotide polymorphisms (SNPs) by mass spectrometry;
e) allele specific PCR with one primer being specific for one allele of a heterozygous polymorphism, if more then one polymorphisms is heterozygous;
f) genotyping on the allele specific PCR product by mass spectrometry.
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Abstract
The invention relates to a method for performing haplotyping of multiple single nucleotide polymorphisms (SNPs) that uses allele specific PCR and mass spectrometry analysis.
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15 Claims
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1. A method for the determination of the haplotype of an individual, comprising the steps of:
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d) genotyping of more than two single nucleotide polymorphisms (SNPs) by mass spectrometry;
e) allele specific PCR with one primer being specific for one allele of a heterozygous polymorphism, if more then one polymorphisms is heterozygous;
f) genotyping on the allele specific PCR product by mass spectrometry. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15)
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Specification