细胞色素P450 1A1和谷胱甘肽s -转移酶Pi 1在咽喉癌中的突变

N. Masood, M. Kayani
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引用次数: 0

摘要

在目前的病例对照研究中,通过PCR-SSCP法筛选了94例咽喉癌、67例喉癌和150例无癌对照。咽喉癌患者和对照组的平均年龄分别为48.14(±16.7)岁、48.56(±17.4)岁和46(±17.69)岁。结果发现CYP1A1基因出现了两个新的突变,一个是A2842C的替换突变,导致酪氨酸到丝氨酸的错义形成,另一个是胸苷在2842核苷酸上插入的移码突变,导致495个核苷酸序列改变。发现3.2%的咽喉癌和2.98%的喉癌患者存在CYP1A1基因突变。在GSTP1基因外显子7中,A2848T的替换导致亮氨酸到亮氨酸的形成,而G2849A的替换分别在166和167个氨基酸上导致丙氨酸到苏氨酸的形成。这些外显子突变在7.4%的咽喉癌患者和9%的喉癌患者中发现。1%咽喉癌患者在1074和1466核苷酸处发现两个内含子缺失。CYP1A1和GSTP1基因突变的积累似乎与咽喉癌发展的风险增加有关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Cytochrome P450 1A1 and Glutathione S-Transferase Pi 1 Mutations in Pharyngeal and Laryngeal Carcinoma
In the current case control study, 94 pharyngeal, 67 laryngeal cancer cases and 150 cancer free controls were screened via PCR-SSCP assay. Mean ages of pharyngeal, laryngeal cancer patients and control was 48.14 (± 16.7), 48.56 (± 17.4) and 46 (± 17.69) years respectively. Results revealed two novel mutations in CYP1A1 gene, a substitution mutation of A2842C resulting in missense tyrosine to serine formation and frameshift mutation due to insertion of thymidine at nucleotide 2842 resulting in 495 nucleotide sequences to alter. It was found that 3.2% pharyngeal and 2.98% laryngeal cancer patients had these mutations in CYP1A1. In GSTP1 gene exon 7, an A2848T substitution causes a leucine to leucine formation whereas G2849A substitution causes alanine to threonine formation at amino acid 166 and 167 respectively. These exonic mutations were found in 7.4% pharyngeal cancer and 9% laryngeal cancer patients. Two intronic deletions of C at nucleotide 1074 and 1466 were found in 1% pharyngeal and laryngeal cancer patients. Accumulation of mutations in CYP1A1 and GSTP1 genes seem to be associated with increased risk of pharyngeal and laryngeal cancer development.
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