Cited 0 times in

Copy number variation and gene rearrangements in CYP2D6 genotyping using multiplex ligation-dependent probe amplification in Koreans

Title
 Copy number variation and gene rearrangements in CYP2D6 genotyping using multiplex ligation-dependent probe amplification in Koreans 
Authors
 Juwon Kim ; Soo-Youn Lee ; Kyung-A Lee 
Issue Date
2012
Journal Title
 PharmacoGenomics 
ISSN
 1462-2416 
Citation
 PharmacoGenomics, Vol.13(8) : 963~973, 2012 
Abstract
AIM: The present study introduces a simple method for CYP2D6 genotyping that not only determines the heterozygous or homozygous deletions and duplications, but also distinguishes tandem hybrids. MATERIALS & METHODS: Using two commercially available methods, 49 Korean male subjects were genotyped for CYP2D6. The Affymetrix(®) Targeted Human Drug Metabolizing Enzymes and Transporter 1.0 Assay was used for SNP genotyping and multiplex ligation-dependent probe amplification (MLPA) assay (SALSA(®) MLPA(®) Kit P128-A1 CYP450) was used for copy number analysis. Long range PCR was used to confirm the MLPA results. Fifty Caucasian samples obtained from the Coriell Institute were used to confirm the accuracy of the MLPA assay. RESULTS: Using two commercially available methods, we found seven different allele types with CYP2D6*1 (34.7%), *2 (12.2%), *10 (17.4%) and *36-*10 (22.5%) being the most common alleles in the Korean population. The MLPA results showed 100% agreement with long-range-PCR results and were able to distinguish deletions and duplications among 50 Caucasian reference samples. CONCLUSION: The application of MLPA-based genotyping to routine clinical analysis will enable patients to be assigned to more accurate genotypes at a reasonable cost in a large number of individuals at the majority of locations.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/91664
DOI
10.2217/pgs.12.58
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Laboratory Medicine
Yonsei Authors
사서에게 알리기
  feedback
Link
 http://www.futuremedicine.com/doi/abs/10.2217/pgs.12.58
Export
RIS (EndNote)
XLS (Excel)
XML

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse