一种基于微阵列的系统，用于同时分析人类基因中与抗疟药物代谢相关的单核苷酸多态性。
A microarray-based system for the simultaneous analysis of single nucleotide polymorphisms in human genes involved in the metabolism of anti-malarial drugs.
机构信息
Swiss Tropical Institute, Socinstrasse 57, PO Box, 4002 Basel, Switzerland.
出版信息
Malar J. 2009 Dec 9;8:285. doi: 10.1186/1475-2875-8-285.
BACKGROUND
In order to provide a cost-effective tool to analyse pharmacogenetic markers in malaria treatment, DNA microarray technology was compared with sequencing of polymerase chain reaction (PCR) fragments to detect single nucleotide polymorphisms (SNPs) in a larger number of samples.
METHODS
The microarray was developed to affordably generate SNP data of genes encoding the human cytochrome P450 enzyme family (CYP) and N-acetyltransferase-2 (NAT2) involved in anti-malarial drug metabolisms and with known polymorphisms, i.e. CYP2A6, CYP2B6, CYP2C8, CYP2C9, CYP2C19, CYP2D6, CYP3A4, CYP3A5, and NAT2.
RESULTS
For some SNPs, i.e. CYP2A62, CYP2B65, CYP2C83, CYP2C93/5, CYP2C193, CYP2D64 and NAT26/7/14, agreement between both techniques ranged from substantial to almost perfect (kappa index between 0.61 and 1.00), whilst for other SNPs a large variability from slight to substantial agreement (kappa index between 0.39 and 1.00) was found, e.g. CYP2D617 (2850C>T), CYP3A41B and CYP3A5*3.
CONCLUSION
The major limit of the microarray technology for this purpose was lack of robustness and with a large number of missing data or with incorrect specificity.
背景
为了提供一种经济有效的方法来分析疟疾治疗中的遗传标记物，我们将 DNA 微阵列技术与聚合酶链反应 (PCR) 片段测序进行了比较，以在更多的样本中检测单核苷酸多态性 (SNP)。
方法
该微阵列的开发旨在经济有效地生成编码人类细胞色素 P450 酶家族 (CYP) 和参与抗疟药物代谢的 N-乙酰基转移酶-2 (NAT2) 的基因的 SNP 数据，这些基因具有已知的多态性，即 CYP2A6、CYP2B6、CYP2C8、CYP2C9、CYP2C19、CYP2D6、CYP3A4、CYP3A5 和 NAT2。
结果
对于某些 SNP，例如 CYP2A62、CYP2B65、CYP2C83、CYP2C93/5、CYP2C193、CYP2D64 和 NAT26/7/14，两种技术之间的一致性从显著到几乎完美 (kappa 指数在 0.61 到 1.00 之间)，而对于其他 SNP，发现一致性从轻微到显著的变异性较大 (kappa 指数在 0.39 到 1.00 之间)，例如 CYP2D617(2850C>T)、CYP3A41B 和 CYP3A5*3。
结论
微阵列技术的主要局限性是缺乏稳健性，并且存在大量缺失数据或特异性不正确。
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