【摘要】：目的：探討喉鱗狀細(xì)胞癌與MGMT啟動(dòng)子區(qū)p53基因5’端上游序列單核苷酸多態(tài)性的相關(guān)性,探討p53基因5’端上游序列單核苷酸多態(tài)性組成的兩個(gè)單體型與喉癌的相關(guān)性,為喉鱗狀細(xì)胞癌的發(fā)病提供遺傳標(biāo)記。方法：采用基因小測(cè)序法(SNaPshot法)檢測(cè)96例喉鱗狀細(xì)胞癌和102例對(duì)照人群的MGMT啟動(dòng)子區(qū)、p53基因5’端上游序列位點(diǎn)的4個(gè)單核苷酸多態(tài)性位點(diǎn)(rs1625649、rs2287499、rs2287498、rs228797)基因型,計(jì)算并比較兩組人群基因型頻率和等位基因頻率,應(yīng)用HaploView4.2計(jì)算rs2287499、rs2287498、rs228797連鎖程度及單體型頻率,對(duì)納入對(duì)照人群的4個(gè)位點(diǎn)進(jìn)行哈迪-溫伯格平衡檢驗(yàn)。實(shí)驗(yàn)所有數(shù)據(jù)采用SPSS17.0統(tǒng)計(jì)軟件對(duì)實(shí)驗(yàn)數(shù)據(jù)采用卡方檢驗(yàn)進(jìn)行統(tǒng)計(jì),檢驗(yàn)水準(zhǔn)a=0.05,設(shè)定p0.05為差異具有顯著性。結(jié)果：MGMT啟動(dòng)子區(qū)和p53基因5’端上游序列位點(diǎn)的4個(gè)單核苷酸多態(tài)性位點(diǎn)rs1625649、rs2287499、rs2287498、rs228797在人群中均具有多態(tài)性,4個(gè)位點(diǎn)的基因型在病例組和健康對(duì)照組間差異沒(méi)有統(tǒng)計(jì)學(xué)意義(X2值分別為4.47、0.98、1.67、4.68,P值均0.05),MGMT啟動(dòng)子區(qū)位點(diǎn)rs1625649的等位基因頻率在病例組和健康對(duì)照組間差異有統(tǒng)計(jì)學(xué)意義(X2值為5.77,P0.05),p53基因5'端上游序列位點(diǎn)rs2287499、rs2287498、rs228797等位基因頻率在病例組和健康對(duì)照組間差異沒(méi)有統(tǒng)計(jì)學(xué)意義(X2值分別為1.11、1.56、3.36,P值均0.05)。rs2287499、rs2287498、rs228797可分為兩種單體型,兩種單體型在病例組和健康對(duì)照組間差異沒(méi)有統(tǒng)計(jì)學(xué)意義(X2值為1.46,P值均0.05)結(jié)論：MGMT基因多態(tài)位與喉癌發(fā)病可能相關(guān)。
[Abstract]:Objective: to investigate the association between single nucleotide polymorphisms (SNP) of p53 gene 5'upstream sequence in laryngeal squamous cell carcinoma (LSCC) and MGMT promoter region, and to explore the relationship between the two haplotypes of p53 gene 5'upstream sequence mononucleotide polymorphism (HNP) and laryngeal carcinoma. To provide genetic markers for the development of laryngeal squamous cell carcinoma. Methods: four single nucleotide polymorphism loci (rs1625649, rs2287499 and rs2287498rs2287498rs2287498rs2287498rs2287498rs2287498rs2287498rs2287498) were detected in 96 cases of laryngeal squamous cell carcinoma (LSCC) and 102 controls by gene small sequencing (SNaPshot). Genotypic frequencies and allelic frequencies were calculated and compared between the two groups. The linkage degree and haplotype frequency of rs2287499 / rs228798 / rs228498 / rs228797 were calculated by HaploView4.2, and the Hardy Weinberg equilibrium test was performed at 4 loci in the control population. All the data of the experiment were statistically analyzed by using SPSS17.0 software. The test level was 0.05, and p0.05 was set as the significant difference. Results the four single nucleotide polymorphisms (rs1625649 / rs2287499 / rs2287498 / rs2287498rs228797) were found in the 5 '-terminal upstream of the 5' -terminal region of the p53 gene. There was no significant difference in the genotype of the 4 loci between the case group and the healthy control group. The allelic frequency of rs1625649 at the promoter site of MGMT was significantly different between the case group and the healthy control group (X2 = 5.77P 0.05). The allele frequency of the 5'upstream sequence of p53 gene rs2287499rs2287498rs228488rs228797 was significantly different between the case group and the healthy control group (X2 = 5.77-P0.05). There was no significant difference between healthy control group (X2 = 1.111.56 / 3.36 P = 0.05) .Rs2287499nrs2287498rs228797 could be divided into two haplotypes. There was no significant difference between the two haplotypes (X2 = 1.46, P = 0.05). Conclusion the polymorphic position of MGMT gene may be associated with laryngeal cancer.
【學(xué)位授予單位】：濱州醫(yī)學(xué)院
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2014
【分類號(hào)】：R739.65

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