NOVEL SINGLE NUCLEOTIDE POLYMORPHISMS AND COMBINATIONS OF NOVEL AND KNOWN POLYMORPHISMS FOR DETERMINING THE ALLELE-SPECIFIC EXPRESSION OF THE IGF2 GENE

摘要

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

主权项

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:20.