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基因变异与头颈癌风险。

Genetic variations and head and neck cancer risks.

作者信息

Masood Nosheen, Yasmin Azra, Kayani Mahmood Akhtar

机构信息

Environmental Sciences Department, Fatima Jinnah Women University, Rawalpindi, Pakistan,

出版信息

Mol Biol Rep. 2014;41(4):2667-70. doi: 10.1007/s11033-014-3125-6. Epub 2014 Jan 23.

Abstract

Variations in CYP1A1, GSTM1, GSTT1 and GSTP1 in head and neck cancer have been frequently found in literature. But these studies give an overview of these genetic variations in different populations. The current mini review focus on the analysis of these genetic variations at DNA, mRNA and protein levels in the same study group. Eight publications were reviewed on the same study samples yielding results at DNA, mRNA and protein levels. At DNA level, CYP1A1 showed significantly higher mutations in head and neck cancer patients compared to controls at g.2842A>C and g.2842_2843insT. GSTM1 and GSTT1 showed deletion polymorphisms and heterozygous deletion confers protection against cancer. Mutations were also found in GSTP1 at g.2848A>T, g.2849G>A, g.1074delC and g.1466delC. mRNA and protein expressional analysis revealed underexpression of CYP1A1, loss or underexpression of GSTM1 and GSTT1 and overexpression of GSTP1. In addition an unusual intronic variant of GSTP1 mRNA was also found, retaining the intronic portion between exons. The current review gives a complete study overview regarding CYP1A1, GSTM1, GSTT1 and GSTP1 variations at DNA, mRNA and protein levels in head and neck cancer. The review is helpful in designing a new experiment or gene therapy for head and neck cancer patients.

摘要

头颈部癌中CYP1A1、GSTM1、GSTT1和GSTP1的变异在文献中屡见不鲜。但这些研究概述了不同人群中的这些基因变异情况。当前的小型综述聚焦于同一研究组中这些基因变异在DNA、mRNA和蛋白质水平的分析。对八项关于同一研究样本的出版物进行了综述,这些研究在DNA、mRNA和蛋白质水平得出了结果。在DNA水平,与对照组相比,头颈部癌患者中CYP1A1在g.2842A>C和g.2842_2843insT位点的突变显著更高。GSTM1和GSTT1表现出缺失多态性,杂合缺失赋予抗癌保护作用。在GSTP1的g.2848A>T、g.2849G>A、g.1074delC和g.1466delC位点也发现了突变。mRNA和蛋白质表达分析显示CYP1A1表达不足、GSTM1和GSTT1缺失或表达不足以及GSTP1过表达。此外,还发现了GSTP1 mRNA一种不寻常的内含子变体,保留了外显子之间的内含子部分。当前综述对头颈部癌中CYP1A1、GSTM1、GSTT1和GSTP1在DNA、mRNA和蛋白质水平的变异给出了完整的研究概述。该综述有助于为头颈部癌患者设计新的实验或基因治疗方案。

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