本文關(guān)鍵詞： 表面活性蛋白D 基因型 易感性 單核苷酸 慢性阻塞性肺疾病　出處：《青島大學(xué)》2015年碩士論文　論文類型：學(xué)位論文

【摘要】：目的:初步探討肺表面活性蛋白D(surfactant protein D,SP-D)基因第1外顯子區(qū)域的rs721917多態(tài)位點、第5外顯子區(qū)域的rs2243639多態(tài)位點各基因型在人群中的分布,并研究SP-D基因上rs721917位點、rs2243639位點與慢性阻塞性肺疾病(chronic obstructive pulmonary disease,COPD)發(fā)病之間的關(guān)系。方法:采用病例-對照的研究設(shè)計方法,收集在青島市立醫(yī)院確診的COPD患者117例為COPD組,在該院體檢中心體檢的117例健康人為對照組,兩組研究對象間的性別、年齡相匹配并且相互之間沒有血緣關(guān)系。采用全血DNA提取試劑盒提取234例血液樣本的DNA。應(yīng)用聚合酶鏈反應(yīng)-PCR檢測方法檢測兩組研究對象SP-D基因rs721-917位點、rs2243639位點各位點的等位基因和基因型的分布情況。結(jié)果:(1)在SP-D基因的rs721917位點,發(fā)現(xiàn)COPD組和對照組之間的等位基因和各基因型的分布頻率均具有統(tǒng)計學(xué)差異(χ2=5.200、6.063,P0.05)(兩組間等位基因頻率:C:56.4%VS 66.7%,T:43.6%VS 33.3%,兩組間各基因型的頻率:CC:28.2%VS 41.0%,TC:56.4%VS 51.3%,TT:15.4%VS 7.70%)。(2)在SP-D基因的rs721917位點,同CC基因型相比較,TC基因型不能增加COPD的發(fā)病風(fēng)險,其OR值(95%CI)=1.600(0.910-2.814),P=0.103,TT基因型可以增加COPD的發(fā)病風(fēng)險,其OR值(95%CI)=2.909(1.615-7.261),P=0.020。與等位基因C相比較,等位基因T能增加COPD的發(fā)病風(fēng)險,其OR值(95%CI)=1.545(1.602-2.249),P=0.023。(3)在SP-D基因的rs2243639位點,發(fā)現(xiàn)COPD組與對照組之間的等位基因和各基因型的分布頻率均沒有顯著的統(tǒng)計學(xué)差異(χ2=0.018、0.342,P0.05)(兩組間等位基因頻率:G:85.9%VS 86.3%,A:14.1%VS 13.7%,兩組間基因型頻率:GG:74.4%VS76.1%,GA:23.1%VS 20.5%,TT:2.5%VS 3.4%)。(4)在SP-D基因的rs2243639位點,同GG基因型比較,GA基因型不能夠增加COPD的患病風(fēng)險,其OR值(95%CI)=1.151(0.616-2.148),P=0.659,AA基因型也未能夠增加COPD患病風(fēng)險,其OR值(95%CI)=0.767(0.167-3.529),P=0.734。與等位基因G相比較,A等位基因未增加COPD的患病風(fēng)險,其OR值(95%CI)=1.036(0.614-1.750),P=0.894。結(jié)論:(1)SP-D基因的rs721917多態(tài)位點可能與COPD的發(fā)病有關(guān),等位基因T可能是COPD的易感基因。(2)SP-D基因的rs2243639多態(tài)位點可能與COPD的發(fā)病無關(guān)。
[Abstract]:Objective: to investigate the distribution of rs721917 polymorphism in exon 1 and rs2243639 polymorphism in exon 5 of pulmonary surfactant protein SP-DG gene. To study the relationship between the rs721917 locus rs2243639 on SP-D gene and the pathogenesis of chronic obstructive pulmonary disease of chronic obstructive pulmonary disease (COPD). Methods: using a case-control design method, 117 COPD patients diagnosed in Qingdao Municipal Hospital were collected as COPD group. 117 healthy persons who were examined in the physical examination center of the hospital served as the control group. The sex of the two groups was compared. Age matched and not related to each other. Whole blood DNA extraction kit was used to extract DNAs from 234 blood samples. Polymerase chain reaction-PCR method was used to detect the SP-D gene rs721-917 locus rs2243639 in two groups of subjects. The distribution of alleles and genotypes of the SP-D gene. Results: 1) at the rs721917 site of the SP-D gene, It was found that there were significant differences in the distribution of alleles and genotypes between the COPD group and the control group (蠂 ~ 2 / 5.2006.063 / P 0.05). The rs721917 of the SP-D gene was at the rs721917 locus of the SP-D gene in TW: 46.4VS66.7. TW: 43.6vs 33.3. the frequency of the two groups was CC28.2VS41.0TCw 56.4VS51.3. Compared with CC genotype, TC genotype could not increase the risk of COPD. The OR value of TC genotype was 1.600 ~ 1.600 ~ 0.910-2.814 ~ (?) TT genotype could increase the risk of COPD, and its OR value was 2.909 ~ 1.615-7.261% P0.020.Compared with allele C, allele T could increase the risk of COPD. Its OR value was 1.545 / 1.602-2.249P0. 023. 3) at the rs2243639 site of SP-D gene. It was found that there was no significant difference in the distribution frequency of alleles and genotypes between the COPD group and the control group (蠂 20.018 0.342U P0.05) (the allele frequency between the two groups was: G: 85.9VS 86.3ng), and between the two groups there was no significant difference in the distribution of alleles and genotypes between the two groups. The rs2243639 locus of the SP-D gene was at the rs2243639 site of the SP-D gene, and the frequency of the two groups was as follows: GG74.4VS76.1VS76.1VS20.5. Compared with GG genotype, GA genotype could not increase the risk of COPD, and its OR value was 95%. The OR value of GG genotype was 1.151 ~ 0.616-2.148A / 0.659AA, and the OR value was 0.7670.167-3.529P0.734. Compared with allele G, the risk of COPD was not increased in A allele. Its OR value was 1.036 ~ (0.614-1.750). Conclusion the rs721917 polymorphism of SP-D gene may be related to the pathogenesis of COPD, and the allele T may be the susceptible gene of COPD. The rs2243639 polymorphic locus of SP-D gene may not be related to the pathogenesis of COPD.
【學(xué)位授予單位】：青島大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2015
【分類號】：R563.9

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相關(guān)期刊論文 前1條

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本文編號：1544929