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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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4249981/
https://www.ncbi.nlm.nih.gov/pubmed/25437198
http://dx.doi.org/10.1371/journal.pone.0113955