常用STR基因座在人消化系統(tǒng)腫瘤組織中的變異分析
發(fā)布時(shí)間：2019-05-22 05:51
【摘要】： 目的:對(duì)常用STR基因座在人消化系統(tǒng)腫瘤組織中的變異情況進(jìn)行系統(tǒng)研究和分析,對(duì)變異的類型、規(guī)律等進(jìn)行總結(jié),篩選出變異率小、穩(wěn)定性強(qiáng)的STR基因座,并進(jìn)一步建立驗(yàn)證突變的技術(shù)手段。 方法:收集新鮮人消化系統(tǒng)腫瘤組織和對(duì)應(yīng)正常組織99例,用Chelex-100法提取基因組DNA;采用Identifiler試劑盒對(duì)所有樣本擴(kuò)增,擴(kuò)增產(chǎn)物通過(guò)ABI3100-Avant型遺傳分析儀進(jìn)行毛細(xì)管電泳,收集電泳信息,用Genemapper 3.2檢測(cè)各位點(diǎn)的基因型,對(duì)分型結(jié)果進(jìn)行比較,分別篩選出不同類型的變異樣本;根據(jù)STR基因座的基因組學(xué)和遺傳學(xué)特征,設(shè)計(jì)引物,建立用于驗(yàn)證STR變異的技術(shù)手段。 結(jié)果:對(duì)于99例所收集樣本,均成功提取了基因組DNA,經(jīng)STR分型試劑盒對(duì)所有樣本擴(kuò)增,獲得的擴(kuò)增產(chǎn)物進(jìn)行毛細(xì)管電泳檢測(cè),結(jié)果表明有49例樣本發(fā)生了變異,總變異率近50%。變異的類型包括增加等位基因、基因型變更、完全雜合性丟失和部分雜合性丟失,其中增加等位基因37例,基因型變更3例,完全雜合性缺失14例,部分雜合性丟失83例。 結(jié)論:四種變異類型在15個(gè)STR基因座中都有分布,其中變異頻率最大的STR基因座依次為FGA、D18S51、D5S818、D13S317和D8S1179。TH01基因座、D2S1338基因座、TPOX基因座變異頻率最低,具有較好的穩(wěn)定性。所建立的PCR體系可以用于驗(yàn)證腫瘤組織中STR基因座是否發(fā)生了突變。
[Abstract]:Objective: to systematically study and analyze the variation of STR loci in human digestive system tumors, summarize the types and laws of variation, and screen out the STR loci with low mutation rate and strong stability. And further establish the technical means to verify the mutation. Methods: 99 cases of fresh human digestive system tumor tissues and corresponding normal tissues were collected and genomic DNA; was extracted by Chelex- 100 method. All samples were amplified by Identifiler kit, and the amplified products were detected by capillary electrophoresis with ABI3100- Avant genetic analyzer. The electrophoresis information was collected, the genotypes of each point were detected by Genemapper 3.2, and the typing results were compared. Different types of variation samples were screened out. According to the genomics and genetic characteristics of STR loci, primers were designed to establish a technical means to verify STR variation. Results: for 99 samples collected, genomic DNA, was successfully extracted and all samples were amplified by STR typing kit. The amplified products were detected by capillary electrophoresis. The results showed that 49 samples had mutated. The total variation rate is nearly 50%. The types of variation included increased alleles, genotypic changes, complete loss of heterozygosity and loss of partial heterozygosity, including 37 cases of increased alleles, 3 cases of genotypic changes, 14 cases of complete loss of heterozygosity and 83 cases of partial loss of heterozygosity. Conclusion: the four variation types are distributed in 15 STR loci, among which the STR loci with the largest frequency of variation are FGA,D18S51,D5S818,D13S317 and D8S1179.TH01 loci, D2S1338 loci and TPOX loci have the lowest variation frequency. It has good stability. The established PCR system can be used to verify the mutation of STR locus in tumor tissues.
【學(xué)位授予單位】：蘇州大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2008
【分類號(hào)】：D919
本文編號(hào)：2482729
[Abstract]:Objective: to systematically study and analyze the variation of STR loci in human digestive system tumors, summarize the types and laws of variation, and screen out the STR loci with low mutation rate and strong stability. And further establish the technical means to verify the mutation. Methods: 99 cases of fresh human digestive system tumor tissues and corresponding normal tissues were collected and genomic DNA; was extracted by Chelex- 100 method. All samples were amplified by Identifiler kit, and the amplified products were detected by capillary electrophoresis with ABI3100- Avant genetic analyzer. The electrophoresis information was collected, the genotypes of each point were detected by Genemapper 3.2, and the typing results were compared. Different types of variation samples were screened out. According to the genomics and genetic characteristics of STR loci, primers were designed to establish a technical means to verify STR variation. Results: for 99 samples collected, genomic DNA, was successfully extracted and all samples were amplified by STR typing kit. The amplified products were detected by capillary electrophoresis. The results showed that 49 samples had mutated. The total variation rate is nearly 50%. The types of variation included increased alleles, genotypic changes, complete loss of heterozygosity and loss of partial heterozygosity, including 37 cases of increased alleles, 3 cases of genotypic changes, 14 cases of complete loss of heterozygosity and 83 cases of partial loss of heterozygosity. Conclusion: the four variation types are distributed in 15 STR loci, among which the STR loci with the largest frequency of variation are FGA,D18S51,D5S818,D13S317 and D8S1179.TH01 loci, D2S1338 loci and TPOX loci have the lowest variation frequency. It has good stability. The established PCR system can be used to verify the mutation of STR locus in tumor tissues.
【學(xué)位授予單位】：蘇州大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2008
【分類號(hào)】：D919
【參考文獻(xiàn)】
相關(guān)期刊論文 前2條
1 劉開(kāi)會(huì),季安全,邱寧,王堅(jiān),王傳海,郭燕霞,常彩琴,王占海,王建國(guó),曹俠;腫瘤組織9個(gè)STR基因座及Amelogenin基因座突變[J];中國(guó)法醫(yī)學(xué)雜志;2002年02期
2 方建新;李成濤;肖立;;13個(gè)STR位點(diǎn)在人消化系統(tǒng)腫瘤組織中的變異分析[J];法醫(yī)學(xué)雜志;2007年04期
，本文編號(hào)：2482729
本文鏈接：http://www.sikaile.net/shekelunwen/gongan/2482729.html
最近更新
教材專著
