Article
G-quadruplex structures and CpG methylation cause drop-out of the maternal allele in polymerase chain reaction amplification of the imprinted MEST gene promoter.
PloS one - 1 Jan 2014
Stevens Aaron J, Stuffrein-Roberts Selma, Cree Simone L, Gibb Andrew, Miller Allison L, Doudney Kit, Aitchison Alan, Eccles Michael R, Joyce Peter R, Filichev Vyacheslav V, Kennedy Martin A
Abstract excerpt
We observed apparent non-Mendelian behaviour of alleles when genotyping a region in a CpG island at the 5' end of the maternally imprinted human MEST isoform. This region contains three single nucleotide polymorphisms (SNPs) in total linkage disequilibrium, such that only two haplotypes occur in the human population. Only one haplotype was detectable in each subject, never both, despite the use of multiple...
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