Methods And Kits For Linking Polymorphic Sequences To Expanded Repeat Mutations

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Abstract

Methods and kits are provided for determining which single nucleotide polymorphism ("SNP") variant of an allele of a heterozygous patient is on the same allele as a disease-causing mutation that is at a remote region of the gene's mRNA comprising a) an allele specific reverse transcription reaction using an allele specific primer which recognizes one SNP variant, wherein further the 3' end of the primer is positioned at the SNP nucleaotide position, and b) analysis of the resulting cDNA product from the reverse transcription reaction at the region of the mutation to determine the presence or absence of the mutation on this allele specific cDNA product, wherein the allele specific primer is shorter than about 20 nucleotides.


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Document History
  • Publication: Mar 23, 2011
  • Application: May 23, 2007
    EP EP 10008553 A
  • Priority: May 23, 2007
    EP EP 07777234 A
  • Priority: May 24, 2006
    US US 43985806 A

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