Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Sema4, a Mount Sinai venture, Stamford, CT 06902, USA.
Pharmacogenomics. 2019 Jan;20(1):9-20. doi: 10.2217/pgs-2018-0135. Epub 2018 Dec 6.
To comprehensively interrogate CYP2D6 by integrating genotyping, copy number analysis and novel strategies to identify CYP2D6*36 and characterize CYP2D6 duplications.
Genotyping of 16 CYP2D6 alleles, multiplex ligation-dependent probe amplification (MLPA) and CYP2D6*36 and duplication allele-specific genotyping were performed on 427 African-American, Asian, Caucasian, Hispanic, and Ashkenazi Jewish individuals.
A novel PCR strategy determined that almost half of all CYP2D6*10 (100C>T) alleles are actually *36 (isolated or in tandem with *10) and all identified duplication alleles were characterized. Integrated results from all testing platforms enabled the refinement of genotype frequencies across all studied populations.
The polymorphic CYP2D6 gene requires comprehensive interrogation to characterize allelic variation across ethnicities, which was enabled in this study by integrating multiplexed genotyping, MLPA copy number analysis, novel PCR strategies and duplication allele-specific genotyping.
通过整合基因分型、拷贝数分析和新型策略来全面研究 CYP2D6，以鉴定 CYP2D6*36 并对 CYP2D6 基因重复进行特征分析。
对 427 名非裔美国人、亚裔、白种人、西班牙裔和阿什肯纳兹犹太人进行了 16 个 CYP2D6 等位基因的基因分型、多重连接依赖性探针扩增（MLPA）以及 CYP2D6*36 和重复等位基因特异性基因分型。
一种新型 PCR 策略确定，几乎所有 CYP2D610（100C>T）等位基因实际上都是36（与*10 单独或串联存在），并且对所有鉴定出的重复等位基因进行了特征分析。所有检测平台的综合结果使我们能够在所有研究人群中对基因型频率进行细化。
多态性 CYP2D6 基因需要进行全面分析，以确定不同种族之间的等位基因变异情况，本研究通过整合多重基因分型、MLPA 拷贝数分析、新型 PCR 策略和重复等位基因特异性基因分型，实现了这一目标。
