J Lab Med Qual Assur.  2014 Jun;36(2):92-98.

Evaluation of a Fully Automated, Rapid Detection System for CYP2C19 and UGT1A1 Genotyping

• Jeon Y
• Lee SJ
• Cho SI
• Seo SH
• Ra EK
• Park S
• Seong MW
• Park SS

Abstract

BACKGROUND
The need for genotyping single nucleotide polymorphisms (SNPs) in genes encoding drug-metabolizing enzymes is increasing. Therefore, the recent focus has been on developing fully automated methods for the rapid and accurate measurement of SNPs.
METHODS
We used the quenching probe (QP) method and i-densy IS-5310 to genotype 200 DNA specimens from 200 healthy Koreans and 100 whole blood from another 100 for the SNPs CYP2C19*2 and CYP2C19*3. We also performed genotyping of UGT1A1*6 and UGT1A1*28 with the above mentioned 200 DNA samples and 81 whole blood samples. The results of the assay were then compared to conventional direct sequencing.
RESULTS
The allele frequencies of CYP2C19 were 25.7% for *2 and 10.3% for *3, and those of UGT1A1 were 17.3% for *6 and 11.2% for *28. These results are similar to those reported in previous studies on Korean populations. The CYP2C19 and UGT1A1 genotypes determined by the QP method perfectly matched (100.0%, K=1.000, P<0.001 for CYP2C19, and 99.6%, K=0.992, P<0.001 for UGT1A1) those determined by direct sequencing, barring a single exception for the UGT1A1 genotype in 1 DNA specimen.
CONCLUSIONS
Our results suggest that the QP method, owing to its speed and ease of use, will enable rapid and sensitive diagnosis in clinical laboratories.

Keyword

Genotyping; CYP2C19; UGT1A1; Single nucleotide polymorphism

MeSH Terms

Diagnosis
DNA
Gene Frequency
Genotype
Polymorphism, Single Nucleotide
DNA