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 CYP2C83 in a South American population

• Published in: Journal of human genetics Vol. 52; no. 2; pp. 195 - 199
• Main Authors: Bravo-Villalta, Heydy Varinia, Yamamoto, Koujirou, Nakamura, Katsunori, Bayá, Ana, Horiuchi, Ryuya
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01-02-2007
• Subjects: Aryl Hydrocarbon Hydroxylases - genetics; Cytochrome P-450 CYP2C8; DNA Mutational Analysis; DNA Primers; Gene polymorphism; Genotype; Genotyping; Humans; Introns - genetics; Mutation - genetics; Polymerase Chain Reaction; Polymorphism; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide - genetics; Population; Population genetics; Restriction fragment length polymorphism; Single-nucleotide polymorphism; South America; South America
• ISSN: 1434-5161; 1435-232X
• DOI: 10.1007/s10038-006-0097-y

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.