Coding single nucleotide polymorphism is an ideal marker for detecting gene imprinting by 5' nuclease assay / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To establish a novel approach for quick and high throughput verification of human gene imprinting.</p><p><b>METHODS</b>By use of a pair of dye-labeled probes, 5' nuclease assay was combined with reverse transcriptase-PCR(RT-PCR) to genotype a coding single nucleotide polymorphism (cSNP), rs705(C/T) of a known imprinted gene, small nuclear ribonucleotide protein N (SNRPN), on both genomic DNA and cDNA of human lymphoblast cell lines.</p><p><b>RESULTS</b>Allele discrimination showed a clear monoallelic expression pattern of SNRPN, which was confirmed by RT-PCR based restriction fragment length polymorphisms. Pedigree analysis verified the paternal origin of expressed allele, which is in consistency with previous report.</p><p><b>CONCLUSION</b>Coding SNP is an ideal marker for detecting gene imprinting by 5' nuclease assay. This approach has also a potentiality to discover differential allele expression of non-imprinted genes in order to find gene cis-acting functional polymorphism.</p>