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US09273356B2 Methods and kits for linking polymorphic sequences to expanded repeat mutations 有权
将多态性序列与扩增的重复突变连接的方法和试剂盒

Methods and kits for linking polymorphic sequences to expanded repeat mutations
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 nucleotide 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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