Patent ID: 9273356
Filing Date: 2016-03-01
CPC Classification: A61P,C12N,C12Q

Claim Text:
1. A method for determining which single nucleotide polymorphism variant of an allele from a gene isolated from a heterozygous patient is on the same mRNA transcript as a disease-causing mutation at a remote region of the gene's mRNA comprising: a) providing first allele-specific primer which recognizes a single nucleotide polymorphism (SNP) variant of a SNP in the mRNA transcript of said heterozygous patient, b) providing a second allele-specific primer which recognizes another variant of said SNP in the mRNA transcript of said heterozygous patient, c) conducting a reverse transcription reaction from said gene's mRNA using either the allele-specific primer of part (a) or the allele-specific primer of part (b); d) providing a set of PCR primers flanking said disease-causing mutation and capable of hybridizing to the allele-specific cDNA product, and e) amplifying said remote region of the allele-specific cDNA product using a said set of PCR primers, wherein the allele-specific primer and the second allele-specific primer is shorter than 18 nucleotides.