Multiplex PCR detection of GSTM1, GSTT1, and GSTP1 gene variants -: Simultaneously detecting GSTM1 and GSTT1 gene copy number and the allelic status of the GSTP1 Ile105Val genetic variant
Multiplex PCR detection of GSTM1, GSTT1, and GSTP1 gene variants -: Simultaneously detecting GSTM1 and GSTT1 gene copy number and the allelic status of the GSTP1 Ile105Val genetic variant
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DOI：
10.2353/jmoldx.2007.070030
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发表时间：
2007-11-01
影响因子：
4.1
通讯作者：
Morling, Niels
中科院分区：
文献类型：
--
作者：
Buchard, Anders;Sanchez, Juan J.;Morling, Niels
谷胱甘肽s -转移酶（GST）基因GSTM1、GSTT1和GSTP1参与多种有毒物质的解毒。这些基因的遗传多态性已被深入研究，因为它们在癌症易感性和药物反应中的潜在作用。在白种人中，GSTM1和GSTT1的酶活性分别在大约50%和15%的人群中缺失，这是由于基因的两个染色体拷贝缺失。存在一种三模表型模式，其中具有两个、一个或没有功能基因的个体分别是快速、中间或缓慢的“共轭子”。大多数调查GSTM1和GSTT1缺失影响的研究没有区分快速和中间接合子，因为应用的基因分型分析只检测是否存在至少一个基因拷贝。我们提出了一种多重PCR检测方法，可以检测个体是否没有、一个或两个GSTM1和GSTT1基因拷贝，并同时检测GSTP1 Il1005Val遗传变异的等位基因状态。共有200名丹麦人、100名索马里人和100名格陵兰人进行了基因分型。这种多重PCR分析使未来的大规模研究能够调查gst的作用。
The glutathione S-transferase (GST) genes GSTM1, GSTT1, and GSTP1 are involved in the detoxification of a broad range of toxic substances. Genetic polymorphism in these genes have been studied intensively for their potential role in cancer susceptibility and drug response. In Caucasians, the enzyme activity of GSTM1 and GSTT1 is absent in approximately 50 and 15% of the population, respectively, due to deletions of both chromosomal copies of the genes. A trimodal phenotype pattern exists in which individuals with two, one, or no functional genes are fast, intermediate, or slow "conjugators," respectively. Most studies investigating the effect of the GSTM1 and GSTT1 deletions do not distinguish between fast and intermediate conjugators because the applied genotyping assays only detect if at least one copy of either gene is present. We present a multiplex PCR assay that detects if an individual has none, one, or two copies of the GSTM1 and GSTT1 genes and simultaneously detects the allelic status of the GSTP1 Il1005Val genetic variant. A total of 200 Danes, 100 Somalis, and 100 Greenlanders were genotyped. This multiplex PCR assay enables future large-scale studies to investigate the role of GSTs.