Evaluation of a Fully Automated, Rapid Detection System for CYP2C19 and UGT1A1 Genotyping.
- Author:
Yongbum JEON
1
;
Seung Jun LEE
;
Sung Im CHO
;
Soo Hyun SEO
;
Eun Kyung RA
;
Seungman PARK
;
Moon Woo SEONG
;
Sung Sup PARK
Author Information
1. Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea. sparkle@snu.ac.kr
- Publication Type:Original Article
- Keywords:
Genotyping;
CYP2C19;
UGT1A1;
Single nucleotide polymorphism
- MeSH:
Diagnosis;
DNA;
Gene Frequency;
Genotype;
Polymorphism, Single Nucleotide
- From:Journal of Laboratory Medicine and Quality Assurance
2014;36(2):92-98
- CountryRepublic of Korea
- Language:English
-
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.
