دورية أكاديمية
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Single tube genotyping of CYP2A6 gene deletion based on copy number determination by quantitative real-time PCR.

التفاصيل البيبلوغرافية
العنوان: Single tube genotyping of CYP2A6 gene deletion based on copy number determination by quantitative real-time PCR.
المؤلفون: Liu JH; National Engineering Research Center for Miniaturized Detection Systems, School of Life Sciences, Northwest University, Xi'an, PR China., Xun XJ; National Engineering Research Center for Miniaturized Detection Systems, School of Life Sciences, Northwest University, Xi'an, PR China., Pang C; National Engineering Research Center for Miniaturized Detection Systems, School of Life Sciences, Northwest University, Xi'an, PR China., Ma J; National Engineering Research Center for Miniaturized Detection Systems, School of Life Sciences, Northwest University, Xi'an, PR China., Zou H; National Engineering Research Center for Miniaturized Detection Systems, School of Life Sciences, Northwest University, Xi'an, PR China., Chen C; National Engineering Research Center for Miniaturized Detection Systems, School of Life Sciences, Northwest University, Xi'an, PR China., Dai PG; National Engineering Research Center for Miniaturized Detection Systems, School of Life Sciences, Northwest University, Xi'an, PR China. Electronic address: daipg@nuw.edu.cn.
المصدر: Experimental and molecular pathology [Exp Mol Pathol] 2014 Dec; Vol. 97 (3), pp. 529-34. Date of Electronic Publication: 2014 Oct 29.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0370711 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0945 (Electronic) Linking ISSN: 00144800 NLM ISO Abbreviation: Exp Mol Pathol Subsets: MEDLINE
أسماء مطبوعة: Publication: <2000- > : Amsteram : Elsevier
Original Publication: New York : Academic Press
مواضيع طبية MeSH: Gene Deletion* , Gene Dosage*, Cytochrome P-450 CYP2A6/*genetics , Real-Time Polymerase Chain Reaction/*methods, DNA Primers/genetics ; Genotype ; Humans
مستخلص: The CYP2A6*4 allele, characterized as the whole deletion of this gene, is closely associated with nicotine dependence, cancer susceptibility, and drug responsiveness. It has long been a significant challenge for pharmacogenetics scientists to develop a reliable method to detect this molecular variant due to its high homology with its homologous genes CYP2A6 and CYP2A3 in the clinical setting. Here, we introduce a quantitative real-time PCR assay that specifically amplifies CYP2A6 by designing a specific set of primers and the probe, which effectively prevent the amplification of the CYP2A7 and CYP2A13 alleles. CYP2A6 gene copy numbers were normalized to albumin (ALB) which was co-amplified simultaneously in a single-tube duplex reaction and at a setting as the internal reference gene. The established assay was validated with a selection of previously genotyped DNA samples, which harbored none, one or two CYP2A6 gene copies. The results were in complete concordance with previously published data and no overlap between the three groups was observed. Further analysis of a cohort of 120 samples revealed high specificity and sensitivity of this assay as demonstrated by the agreement of determined gene copy numbers in all of the cases. In conclusion, this novel assay allows reliable and sensitive detection of the CYP2A6 gene deletion, which will be useful for pharmacogenetics studies and routine clinical settings.
(Copyright © 2014 Elsevier Inc. All rights reserved.)
فهرسة مساهمة: Keywords: CYP2A6*4; Gene copy number; Gene deletion; Quantitative real-time PCR
المشرفين على المادة: 0 (DNA Primers)
EC 1.14.14.1 (CYP2A6 protein, human)
EC 1.14.14.1 (Cytochrome P-450 CYP2A6)
تواريخ الأحداث: Date Created: 20141203 Date Completed: 20150204 Latest Revision: 20161125
رمز التحديث: 20240628
DOI: 10.1016/j.yexmp.2014.10.012
PMID: 25446842
قاعدة البيانات: MEDLINE
الوصف
تدمد:1096-0945
DOI:10.1016/j.yexmp.2014.10.012