發(fā)布時(shí)間：2018-04-26 19:38

  本文選題：前列腺腫瘤 + 前列腺癌　； 參考：《山東醫(yī)藥》2017年19期

【摘要】：目的篩查前列腺癌(PCA)基因外顯子區(qū)的突變位點(diǎn),并分析其與PCA易感性的關(guān)系。方法 6例PCA患者,留取PCA組織和癌旁正常組織標(biāo)本。采用液相雜交捕獲技術(shù)分析PCA、癌旁正常組織全基因外顯子區(qū)的單核苷酸多態(tài)性(SNPs),采用Illumina Hi Seq 2000平臺(tái)高通量測(cè)序?qū)⒉东@富集并驗(yàn)證的PCA、癌旁正常組織基因外顯子區(qū)SNPs的DNA文庫(kù)進(jìn)行突變位點(diǎn)比對(duì),篩選PCA基因外顯子區(qū)突變位點(diǎn)。采用bwa軟件與參考基因組hg19作比對(duì),分析PCA外顯子區(qū)功能性突變位點(diǎn)的生物信息學(xué)信息,分析功能性突變位點(diǎn)與PCA易感性的關(guān)系。結(jié)果共發(fā)現(xiàn)4個(gè)未報(bào)道的功能性SNPs突變位點(diǎn),分別為BRCA1 rs16941、MET rs45483396、P53 rs121912655、COPB2 rs7374710。進(jìn)一步通過臨床樣本檢測(cè)結(jié)果顯示,BRCA1 rs16941與COPB2 rs7374710兩個(gè)SNP不僅均與PCA易感性相關(guān)(OR分別為1.47,1.27;95%CI分別為1.14~1.72;1.20~1.41),而且與PCA患者PSA值及Gleason評(píng)分均呈正相關(guān)(OR分別為1.25,1.37;95%CI=1.10~1.84,1.20~2.34;P均0.01)。結(jié)論 PCA外顯子區(qū)存在BRCA1 rs16941、COPB2 rs7374710功能性突變位點(diǎn),攜帶有BRCA1 rs16941、COPB2 rs7374710突變位點(diǎn)的個(gè)體罹患PCA的可能性較高。
[Abstract]:Objective to screen the mutation sites in the exon of prostate cancer (PCA) gene and to analyze the relationship between the mutation and the susceptibility to PCA. Methods the specimens of PCA and adjacent normal tissues were collected from 6 patients with PCA. The single nucleotide polymorphisms (SNPs) in the whole exon region of the normal tissues adjacent to the cancer were analyzed by liquid phase hybridization technique. High throughput sequencing on the Illumina Hi Seq 2000 platform was used to detect the gene exon region of the precancerous normal tissue. The DNA library of SNPs was compared with the mutation locus. The mutation site of exon region of PCA gene was screened. The bioinformatics information of functional mutation site in exon of PCA was analyzed by bwa software and reference genomic hg19, and the relationship between functional mutation site and susceptibility of PCA was analyzed. Results A total of 4 unreported functional SNPs mutations were found, namely BRCA1 rs16941, met rs45483396, p53 rs121912655, COPB2 rs7374710. Furthermore, the results of clinical sample test showed that the OR of BRCA1 rs16941 and COPB2 rs7374710 were not only 1.47 / 1.2795 CI = 1.14 / 1.72 / 1.201.41 / 1, respectively, but also 1.251.3795CI1.101.81.41.20 / 2.34C / r = 1.251.3795CI1.101.81.41.20 / 2.34 / 1 respectively (P = 0.01). Conclusion there is a functional mutation site of BRCA1 rs16941 (COPB2) rs7374710 in the exon of PCA, and individuals with BRCA1 rs16941 (COPB2) rs7374710 mutation are more likely to develop PCA.
【作者單位】： 南通大學(xué)第三附屬醫(yī)院暨無錫市第三人民醫(yī)院;
【基金】：無錫市醫(yī)院管理中心醫(yī)學(xué)科研聯(lián)合攻關(guān)項(xiàng)目(YGZXL1203;YGZXL 1318) 無錫市科技發(fā)展資金(CSE31N1605)
【分類號(hào)】：R737.25
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本文編號(hào)：1807419