Novel single nucleotide polymorphisms and combinations of novel and known polymorphisms for determining the allele-specific expression of the igf2 gene

Abstract

Single nucleotide polymorphisms and uses for determining the imprinting status of the Insulin Growth Factor-2 gene in a clinical specimen are described.

What is claimed is: 
     
         1 . A method of quantifying allelic-specific expression of RNA in a human individual that is a heterozygote for a single nucleotide polymorphism (SNP) in the Insulin Growth Factor-2 (IGF2) gene, the method comprising
 quantifying in a sample from the individual the amount of RNA comprising each polymorphic option of the SNP, wherein the SNP comprises SEQ ID NO: 1, 2, 3, 4, 5, 6, 7, 8, 9, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, and 47.   
     
     
         2 . The method of  claim 1 , wherein the sample is a blood, stool, or tissue sample. 
     
     
         3 . The method of  claim 1 , wherein the RNA is reverse transcribed into cDNA and the quantity of allele-specific cDNA is used to determine the amount of RNA. 
     
     
         4 . The method of  claim 1 , further comprising determining whether the individual is homozygous or heterozygous for the SNP.