老年结直肠癌病人UGT1A1*28及*6基因多态性分析

doi:10.3969/j.issn.1003-9198.2023.10.007

摘要/Abstract

摘要： 目的利用分子病理学检测平台分析老年结直肠癌病人UGT1A1^*28及^*6基因多态性。方法采用PCR-毛细管电泳法以及测序法对老年结直肠癌病人手术切除组织样本进行分析。结果 360例老年结直肠癌病人中,UGT1A1^*28和UGT1A1^*6基因型的分布规律从多到少均为野生型、突变杂合型和突变纯合型。两种基因的多态性在不同性别、肿瘤类型、肿瘤T分期和原发肿瘤部位的分布差异均无统计学意义(P>0.05)。结论 UGT1A1^*28和UGT1A1^*6基因型的分布规律不受性别、肿瘤类型、分期和原发肿瘤部位的影响。UGT1A1^*6比UGT1A1^*28更易发生纯合突变。如果任一位点发生纯合突变,另一位点则可能存在突变排斥。

关键词: 结直肠癌, 尿苷二磷酸葡萄糖醛酸转移酶1A1, 基因多态性, 聚合酶链式反应-毛细管电泳, Sanger测序

Abstract: Objective To analyze the gene polymorphisms of UGT1A1^*28/^*6 in the elderly patients with colorectal cancer by molecular pathological assay. Methods The tissue samples of the elderly patients with colorectal cancer were analyzed by polymerase chain reaction(PCR)-capillary electrophoresis and sequencing. Results The distribution patterns of UGT1A1^*28 and UGT1A1^*6 genotypes in the elderly patients with colorectal cancer were wild type, mutant hybrid type and mutant homozygous type. There were no significant differences in gender, tumor types, tumor T-stage and primary tumor site between the two genetic polymorphisms(P>0.05). Conclusions The distribution patterns of UGT1A1^*28 and UGT1A1^*6 genotypes were not affected by gender, tumor types, tumor T-stage and primary tumor site in the elderly patients with colorectal cancer. UGT1A1^*6 is more susceptible to occur pure mutation than UGT1A1^*28. If a pure mutation occurs at either gene locus, there may be mutational rejection at the other locus.

Key words: colorectal cancer, uridine diphosphate glucuronide transferase 1A1, gene polymorphism, polymerase chain reaction-capillary electrophoresis, Sanger sequencing

中图分类号:

R 735.3

蒋露, 丁颖, 季盼, 缪琛, 吕君文, 陈旭阳, 时姗姗, 李霄. 老年结直肠癌病人UGT1A1^*28及^*6基因多态性分析[J]. 实用老年医学, 2023, 37(10): 1004-1008.

JIANG Lu, DING Ying, JI Pan, MIAO Chen, LYU Jun-wen, CHEN Xu-yan, SHI Shan-shan, LI Xiao. Polymorphism analysis of UGT1A1^*28 and ^*6 genes in elderly patients with colorectal cancer[J]. Practical Geriatrics, 2023, 37(10): 1004-1008.

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