
doi: 10.2144/000112675
pmid: 18251251
Single nucleotide polymorphisms (SNPs) are highly abundant in the genome and especially useful in the search for disease susceptibility genes via population-based association or linkage studies. Therefore, there is a strong need for high throughput and reliable methodologies to assess the SNP genotypes. Despite an unambiguous result of an SNP analysis, with the use of a commercial kit based on primer extension, subsequent sequencing analysis revealed that a proportion of the genotypes was not correctly assessed. The problem we have encountered may originate from specific structures in the genomic DNA sequence, rather than being a methodological problem.
Base Sequence, Genotype, QH301-705.5, Genetic Linkage, Molecular Sequence Data, Reproducibility of Results, Breast Neoplasms, Polymorphism, Single Nucleotide, Humans, Female, Genetic Testing, Reagent Kits, Diagnostic, Biology (General), DNA Primers
Base Sequence, Genotype, QH301-705.5, Genetic Linkage, Molecular Sequence Data, Reproducibility of Results, Breast Neoplasms, Polymorphism, Single Nucleotide, Humans, Female, Genetic Testing, Reagent Kits, Diagnostic, Biology (General), DNA Primers
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