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)布時間：2019-05-22 05:51
【摘要】： 目的:對常用STR基因座在人消化系統(tǒng)腫瘤組織中的變異情況進行系統(tǒng)研究和分析,對變異的類型、規(guī)律等進行總結,篩選出變異率小、穩(wěn)定性強的STR基因座,并進一步建立驗證突變的技術手段。 方法:收集新鮮人消化系統(tǒng)腫瘤組織和對應正常組織99例,用Chelex-100法提取基因組DNA;采用Identifiler試劑盒對所有樣本擴增,擴增產物通過ABI3100-Avant型遺傳分析儀進行毛細管電泳,收集電泳信息,用Genemapper 3.2檢測各位點的基因型,對分型結果進行比較,分別篩選出不同類型的變異樣本;根據STR基因座的基因組學和遺傳學特征,設計引物,建立用于驗證STR變異的技術手段。 結果:對于99例所收集樣本,均成功提取了基因組DNA,經STR分型試劑盒對所有樣本擴增,獲得的擴增產物進行毛細管電泳檢測,結果表明有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。 結論:四種變異類型在15個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.
【學位授予單位】：蘇州大學
【學位級別】：碩士
【學位授予年份】：2008
【分類號】：D919
本文編號：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.
【學位授予單位】：蘇州大學
【學位級別】：碩士
【學位授予年份】：2008
【分類號】：D919
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相關期刊論文 前2條
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2 方建新;李成濤;肖立;;13個STR位點在人消化系統(tǒng)腫瘤組織中的變異分析[J];法醫(yī)學雜志;2007年04期
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