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Jeffrey, G.P., et al. (1999) Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. Nature Genetics, 22, 325-326. doi:10.1038/11892

has been cited by the following article:

• TITLE: Consequences of primer binding-sites polymorphisms on genotyping practice

  AUTHORS: Estefânia M. Martins, Laura Vilarinho, Sofia Esteves, Mónica Lopes-Marques, António Amorim, Luísa Azevedo

  KEYWORDS: Primer Binding-site; SNP; PAH Gene; Molecular Genetics

  JOURNAL NAME: Open Journal of Genetics, Vol.1 No.2, September 23, 2011

  ABSTRACT: Herein we investigated the effect of primer binding site polymorphisms in achieving correct genotyping when a mismatch occurs in distinct positions of the primer sequence. For that purpose primer sequences were designed in order to carry either allelic form at the 3’ end and at 3 bp, 5 bp and 7 bp apart from the 3’ end of an intronic polymorphism (rs2247836) observed in phenylalanine hydroxylase (PAH) gene. For one of the alleles annealing failure was obtained when the mismatch occurs at all the four primer-site locations. Primer sequences carrying the alternative SNP allele resulted to be less specific as the distance to the primer-3’ end was increased. Altogether, these results revealthat effects in the extension of the annealing failure is allele and mismatch-position dependent.