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猫乳腺肿瘤中的突变与表达分析

and Mutation and Expression Analysis in Cat Mammary Tumors.

作者信息

Saif Rashid, Awan Ali Raza, Lyons Leslie, Gandolfi Barbara, Tayyab Muhammad, Ellahi Babar Masroor, Khalid Mehmood Asim, Ullah Zia, Wasim Muhammad

机构信息

Department of Biotechnology, Virtual University of Pakistan, Lahore 54000, Pakistan.

Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Outfall Road, 5400, Lahore, Pakistan.

出版信息

Iran J Biotechnol. 2016 Sep;14(3):202-212. doi: 10.15171/ijb.1480.

Abstract

BACKGROUND

Molecular marker based cancer diagnosis gaining more attention in the current genomics era. So, and gene characterization and their mRNA expression might be helpful in diagnosis and prognosis of cat mammary adenocarcinoma. It will also add information in comparative cancer genetics and genomics.

OBJECTIVES

Eight tumors of Siamese cats were analyzed to ascertain germ-line and tissue-specific somatic DNA variations of and genes along with the ectopic differential expression in tumorous and normal tissues were also analyzed.

MATERIALS AND METHODS

Tumorous tissues and peripheral blood from mammary adenocarcinoma affected Siamese cats were collected from the Pet center-UVAS. DNA and RNA were extracted from these tissues to analyze the and DNA variants and ectopic expression of their mRNA within cancerous and normal tissues.

RESULTS

Exon 1 and 3 revealed as hotspots in gene. The 5´UTR region of the exon1 bear six mutation including 3 transitions, 2 transversion and one heterozygous synonymous transversion in two samples at locus c.34C>C/A. Exon 3 has 1 transversion at c.773A>A/T, 3´UTR of this exon harbor two point mutations at 1868A>T and 2193C>T loci. Intron 2 has two alterations at 1490C>C/T and GTCT4del at 1514. Overall up-regulation of gene was observed. While exons 3, 4 and 7 of harbor a single variationat c.105A>A/G, c.465T>T/C and c.859G>T respectively. The locus c.1050G>G/A in exon 9 is a heterozygous (G/A) in 3 samples and homozygous (G) in 2 other tumours. Introns 3, 5, 7 and 9 harbor 3, 4, 2 and 7 altered loci respectively. Sixty percent of cancers showed up-regulated trend of gene.

CONCLUSIONS

Tumor specific mutations and ectopic expression of and genes might be helpful in the diagnosis of the mammary lesions and endorse their involvement in cat mammary neoplasm.

摘要

背景

在当前的基因组学时代,基于分子标记的癌症诊断越来越受到关注。因此, 基因和 基因的特征及其mRNA表达可能有助于猫乳腺腺癌的诊断和预后评估。这也将为比较癌症遗传学和基因组学提供信息。

目的

分析8只暹罗猫的肿瘤,以确定 基因和 基因的种系和组织特异性体细胞DNA变异,并分析肿瘤组织和正常组织中的异位差异表达。

材料与方法

从宠物中心-UVAS收集患乳腺腺癌的暹罗猫的肿瘤组织和外周血。从这些组织中提取DNA和RNA,以分析 基因和 基因的DNA变异及其mRNA在癌组织和正常组织中的异位表达。

结果

外显子1和3是 基因的热点区域。外显子1的5´UTR区域有6个突变,包括3个转换、2个颠换和2个样本中位于c.34C>C/A位点的1个杂合同义颠换。外显子3在c.773A>A/T处有1个颠换,该外显子的3´UTR在1868A>T和2193C>T位点有2个点突变。内含子2在1490C>C/T处有2个改变,在1514处有GTCT4del。观察到 基因总体上调。而 基因的外显子3、4和7分别在c.105A>A/G、c.465T>T/C和c.859G>T处有1个变异。外显子9中的c.1050G>G/A位点在3个样本中为杂合子(G/A),在另外2个肿瘤中为纯合子(G)。内含子3、5、7和9分别有3个、4个、2个和7个改变的位点。60%的癌症显示 基因有上调趋势。

结论

基因和 基因的肿瘤特异性突变和异位表达可能有助于乳腺病变的诊断,并支持它们参与猫乳腺肿瘤的发生。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa5e/5492242/88b8b7ae4313/ijb-14-202-g001.jpg

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