TITLE

A novel intronic mutation that may affect genotyping result of CYP2C8 by polymerase chain reaction—restriction fragment length polymorphism (PCR—RFLP) is strongly associated with CYP2C8*3 in a South American population

AUTHOR(S)
Bravo-Villalta, Heydy Varinia; Yamamoto, Koujirou; Nakamura, Katsunori; Bayá, Ana; Horiuchi, Ryuya
PUB. DATE
February 2007
SOURCE
Journal of Human Genetics;Feb2007, Vol. 52 Issue 2, p195
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
During the investigation of a CYP2C8*3 genetic polymorphism in a South American population, we obtained a discrepant result using two different polymerase chain reaction (PCR) protocols. A single nucleotide polymorphism (SNP) (IVS3+43 G>C) was identified in the intron 3 region, which was used as a primer-annealing site of one of the two PCR protocols. A genotyping method was developed to enable discrimination of the CYP2C8*1A, CYP2C8*3 (416 G>A), and CYP2C8*3 (416G>A; IVS3+43 G>C) alleles. In a screen of a South American population, we found that individuals carrying the CYP2C8*3 (416 G>A) polymorphism also carried the CYP2C8*3 (416G>A; IVS3+43 G>C). However, we did not find any carriers of CYP2C8*3 (416G>A; IVS3+43 G>C) in a Japanese population.
ACCESSION #
23828061

 

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