泰国人群中[具体基因名称]两个功能性单核苷酸多态性的基因变异与频率
Genetic Variations and Frequencies of the Two Functional Single Nucleotide Polymorphisms of in the Thai Population.
作者信息
Na Nakorn Chalitpon, Waisayarat Jariya, Dejthevaporn Charungthai, Srisawasdi Pornpen, Wongwaisayawan Sansanee, Sukasem Chonlaphat
机构信息
Program in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Laboratory for Pharmacogenomics, Division of Pharmacogenomics and Personalized Medicine, Somdech Phra Debaratana Medical Center (SDMC), Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
出版信息
Front Pharmacol. 2020 Jun 5;11:728. doi: 10.3389/fphar.2020.00728. eCollection 2020.
AIM
To investigate the variations and the frequencies of the gene in the Thai population.
METHODS
Collected samples were categorized into five regions of Thailand. DNA samples were genotyped for two variants, c.388A>G and c.521T>C of the using TaqMan real-time PCR.
RESULTS
The minor allele frequencies (MAFs) of two single nucleotide polymorphisms (SNPs) were not significantly different among the five regions. The most frequent haplotype was (frequency: 0.654), followed by (frequency: 0.217), (frequency: 0.128), and (frequency: 0.001). We observed a similar frequency of OATP1B1 transporter phenotypes compared to other populations. 75.85% of the Thai subjects showed normal OATP1B1 activity, 22.5% showed intermediate OATP1B1 activity, and 1.58% showed low OATP1B1 activity.
CONCLUSION
This study reported the frequencies of the variants and the subsequent OATP1B1 activity in a large cohort of Thais that can provide important information for the guidance of personalized drug therapy.
目的
研究泰国人群中该基因的变异情况及频率。
方法
将收集的样本分为泰国的五个地区。使用TaqMan实时PCR对DNA样本进行两种变异体c.388A>G和c.521T>C的基因分型。
结果
五个地区中两个单核苷酸多态性（SNP）的次要等位基因频率（MAF）无显著差异。最常见的单倍型是 （频率：0.654），其次是 （频率：0.217）、 （频率：0.128）和 （频率：0.001）。与其他人群相比，我们观察到OATP1B1转运体表型的频率相似。75.85%的泰国受试者表现出正常的OATP1B1活性，22.5%表现出中等的OATP1B1活性，1.58%表现出低OATP1B1活性。
结论
本研究报告了一大群泰国人中该变异体的频率以及随后的OATP1B1活性，可为个性化药物治疗的指导提供重要信息。
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