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Article

Allele-specific PCR amplification due to sequence identity between a PCR primer and an amplicon: is direct sequencing so reliable?

Human genetics - 1 Jun 2002

Ikegawa Shiro, Mabuchi Akihiko, Ogawa Masako, Ikeda Toshiyuki

Abstract excerpt

PCR-direct sequencing (DS) is thought to be a very reliable method of determining DNA sequence and genotyping. Under certain conditions, however, DS can generate inaccurate results. Here we report a case of erroneous DS, in which a single nucleotide polymorphism (SNP) in the human PAX9 gene was mistyped due to allele-dependent PCR amplification. Examination of the amplified region showed that the 5' eight bases...

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Source

Identifiers

PMID: 12107448
DOI: 10.1007/s00439-002-0735-1

Genes

PAX9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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