G-quadruplex structures and CpG methylation cause drop-out of the maternal allele in polymerase chain reaction amplification of the imprinted MEST gene promoter.

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...

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Bibliografiske detaljer

Principais autores:	Aaron J Stevens, Selma Stuffrein-Roberts, Simone L Cree, Andrew Gibb, Allison L Miller, Kit Doudney, Alan Aitchison, Michael R Eccles, Peter R Joyce, Vyacheslav V Filichev, Martin A Kennedy
Format:	Artigo
Sprog:	Inglês
Udgivet:	Public Library of Science (PLoS) 2014-01-01
Serier:	PLoS ONE
Online adgang:	https://doi.org/10.1371/journal.pone.0113955
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