Determination of −3858G→A and −164C→A genetic polymorphisms of CYP1A2 in blood and saliva by rapid allelic discrimination: large difference in the prevalence of the −3858G→A mutation between Caucasians and Asians
Determination of −3858G→A and −164C→A genetic polymorphisms of CYP1A2 in blood and saliva by rapid allelic discrimination: large difference in the prevalence of the −3858G→A mutation between Caucasians and Asians
复制标题
通过快速等位基因区分测定血液和唾液中CYP1A2的−3858G→A和−164C→A遗传多态性：白种人与亚洲人之间−3858G→A突变的患病率存在较大差异
DOI：
10.1007/s00228-003-0623-1
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发表时间：
2003
影响因子：
2.9
通讯作者：
M. Wenk
中科院分区：
文献类型：
--
作者：
L. Todesco;M. Török;S. Krähenbühl;M. Wenk
CYP 1A 2基因中有两个突变，即− 164 C →A（等位基因CYP 1A 2 *F）和− 3858 G →A（等位基因CYP 1A 2 *C），影响酶的诱导。本研究的目的是建立一种高通量的等位基因识别方法，检测这两种突变在唾液和血液中的分布，并确定其在高加索人中的频率。结果和结论对于− 164 C →A突变，我们发现在高加索人群中的等位基因频率为68%，与亚洲人和高加索人的已发表数据相当。对于− 3858 G →A突变，白人的等位基因频率仅为2%，远低于亚洲人报告的~25%（P<0.001）。所提出的等位基因鉴别允许快速和准确地检测这两种突变。唾液和血液中的DNA基因型100%相同。唾液很容易获得，是传统上用于基因分型的静脉血的一种很好的替代品。
IntroductionTwo mutations in CYP1A2, −164C→A (allele CYP1A2*F) and −3858G→A (allele CYP1A2*C), affecting the inducibility of the enzyme, have been published. The aim of this study was to develop a high throughput allelic discrimination assay for these mutations in both saliva and blood and to determine their frequency in Caucasians.MethodsAn allelic discrimination assay, based on the fluorogenic 5′-nuclease activity (TaqMan), was developed for the two mutations. Genomic DNA extracted from 17 saliva and 100 blood samples from Caucasians was analysed.Results and conclusionsFor the −164C→A mutation, we found an allelic frequency of 68% in the Caucasian population, comparable with data published for Asians and Caucasians. For the −3858G→A mutation, the allele frequency was only 2% in Caucasians, a much lower value than the ~25% reported in Asians (P<0.001). The presented allelic discrimination allows fast and accurate detection of these two mutations. Genotype calls were 100% identical for DNA from saliva and blood. Saliva is easily accessible and represents an excellent alternative to the traditionally used venous blood for genotyping.
对与 AIDS 发病机制相关的位点 CCR5-/Delta32、CCR2-V64I 和 SDF1-G801A 进行 5 核酸酶测定。
影响因子：
9.3
作者：
Yuan,CC;Peterson,RJ;Wang,CD;Goodsaid,F;Waters,DJ
通讯作者：
Waters,DJ
人肝微粒体和纯化的大鼠肝细胞色素 P-450 单加氧酶对致癌物 4-氨基联苯和 4,4-亚甲基双（2-氯苯胺）的代谢氧化。
影响因子：
11.2
作者：
Butler,MA;Guengerich,FP;Kadlubar,FF
通讯作者：
Kadlubar,FF
唾液：用于分析 Fc γ 受体 IIA (CD32) 和 Fc γ 受体 IIIB (CD16) 双等位基因多态性的便捷 DNA 来源。
影响因子：
2.2
作者：
vanSchie,RC;Wilson,ME
通讯作者：
Wilson,ME