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

DC FieldValueLanguage
dc.contributor.author김주원-
dc.contributor.author이경아-
dc.date.accessioned2014-12-19T17:34:27Z-
dc.date.available2014-12-19T17:34:27Z-
dc.date.issued2012-
dc.identifier.issn1462-2416-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/91664-
dc.description.abstractAIM: 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.-
dc.description.statementOfResponsibilityopen-
dc.relation.isPartOfPHARMACOGENOMICS-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdult-
dc.subject.MESHCytochrome P-450 CYP2D6/blood-
dc.subject.MESHCytochrome P-450 CYP2D6/genetics*-
dc.subject.MESHDNA Copy Number Variations/genetics*-
dc.subject.MESHGene Rearrangement*-
dc.subject.MESHGenes, Duplicate-
dc.subject.MESHGenotyping Techniques/methods*-
dc.subject.MESHHeterozygote-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMultiplex Polymerase Chain Reaction/methods-
dc.subject.MESHRepublic of Korea-
dc.subject.MESHSequence Deletion-
dc.titleCopy number variation and gene rearrangements in CYP2D6 genotyping using multiplex ligation-dependent probe amplification in Koreans-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Laboratory Medicine (진단검사의학)-
dc.contributor.googleauthorJuwon Kim-
dc.contributor.googleauthorSoo-Youn Lee-
dc.contributor.googleauthorKyung-A Lee-
dc.identifier.doi22676200-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA00943-
dc.contributor.localIdA02647-
dc.relation.journalcodeJ02507-
dc.identifier.eissn1744-8042-
dc.identifier.pmid22676200-
dc.identifier.urlhttp://www.futuremedicine.com/doi/abs/10.2217/pgs.12.58-
dc.subject.keywordCYP2D6 gene-
dc.subject.keywordgenotyping-
dc.subject.keywordmultiplex ligation-dependent probe amplification-
dc.contributor.alternativeNameKim, Ju Won-
dc.contributor.alternativeNameLee, Kyung A-
dc.contributor.affiliatedAuthorKim, Ju Won-
dc.contributor.affiliatedAuthorLee, Kyung A-
dc.citation.volume13-
dc.citation.number8-
dc.citation.startPage963-
dc.citation.endPage973-
dc.identifier.bibliographicCitationPHARMACOGENOMICS, Vol.13(8) : 963-973, 2012-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers

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