本文選題：過敏性紫癜 + 內(nèi)皮素-1��； 參考：《暨南大學(xué)》2012年碩士論文

【摘要】：目的：探討內(nèi)皮素-1（endothelin-1，ET-1）基因rs5370與rs1630736位點(diǎn)多態(tài)性與過敏性紫癜（Henoch-Schonlein purpura，HSP）發(fā)病及病程進(jìn)展的關(guān)系；以及HSP患兒血漿及尿液ET-1濃度與HSP發(fā)病、病程及ET-1基因多態(tài)性之間的關(guān)系，進(jìn)一步探討HSP的發(fā)病機(jī)制，為診斷、治療及判斷HSP預(yù)后提供可能的科學(xué)依據(jù)。 方法：將37名過敏性紫癜患兒作為病例組，其中單純HSP組18例，紫癜性腎炎（Henoch-Schonlein purpura nephritis，HSPN）組19例，設(shè)100名正常兒童為基因?qū)φ战M，其中69名為血漿ET-1濃度的對照組，另設(shè)20名肺炎痊愈患兒為尿液ET-1濃度的對照組。運(yùn)用聚合酶鏈?zhǔn)椒磻?yīng)（polymerase chain reaction，PCR）及基因測序的方法檢測患兒ET-1rs5370及rs1630736基因多態(tài)性情況；同時用放免法（radioimmumoassay，RIA）分別檢測各組患兒血漿及尿液ET-1的濃度。 結(jié)果：①在rs5370位點(diǎn)，病例組與對照組，單純HSP組與對照組，HSPN組與對照組之間基因分型頻率、等位基因頻率分布差異無統(tǒng)計(jì)學(xué)意義（P＞0.05）。②在rs1630736位點(diǎn)，病例組與對照組，，單純HSP組與對照組，HSPN組與對照組之間基因分型頻率、等位基因頻率分布差異無統(tǒng)計(jì)學(xué)意義（P＞0.05）。③兩位點(diǎn)的結(jié)合基因型頻率在病例組與對照組之間差異無統(tǒng)計(jì)學(xué)意義（P＞0.05）。④血漿ET-1濃度在病例組急性期與恢復(fù)期之間（t=2.64，P=0.012），病例組急性期與對照組之間（t=2.12，P=0.042）差異有統(tǒng)計(jì)學(xué)意義。⑤尿液ET-1濃度在病例組與對照組之間（t=3.52，P=0.001），HSPN組與對照組之間（t=3.16，P=0.006），病例組急性期與恢復(fù)期之間（t=2.41，P=0.026），差異均有統(tǒng)計(jì)學(xué)意義。⑥在rs5370位點(diǎn)，病例組GG基因型、GT基因型及TT基因型之間血漿ET-1濃度，差異無統(tǒng)計(jì)學(xué)意義（P＞0.05）；病例組GG基因型與GT基因型之間尿液ET-1濃度，差異無統(tǒng)計(jì)學(xué)意義（P＞0.05）。⑦在rs1630736位點(diǎn)，病例組CC基因型、CT基因型與TT基因型血漿及尿液ET-1濃度差異無統(tǒng)計(jì)學(xué)意義（P＞0.05）。 結(jié)論：①未能證實(shí)ET-1基因rs5370位點(diǎn)及rs1630736位點(diǎn)多態(tài)性與過敏性紫癜發(fā)病及腎損害的相關(guān)性。②HSP患兒可通過同時檢測患兒血漿及尿液中ET-1濃度，監(jiān)測患兒病程進(jìn)展。
[Abstract]:Objective: to investigate the relationship between the polymorphism of rs5370 and rs1630736 loci of endothelin-1 (et 1) gene and the pathogenesis and progression of Henoch-Schonlein purpura HSPs, and the relationship between plasma and urine ET-1 concentrations and HSPs pathogenesis, course of disease and polymorphism of ET-1 gene in children with HSP. To further explore the pathogenesis of HSP, provide possible scientific basis for diagnosis, treatment and prognosis of HSP. Methods: 37 children with Henoch-Schonlein purpura nephritisn (HSPNs) were divided into two groups: HSP group (n = 18) and Henoch-Schonlein purpura (HSPN) group (n = 19). Another 20 recovered children with pneumonia were served as the control group with urine ET-1 concentration. The polymorphisms of ET-1rs5370 and rs1630736 gene were detected by polymerase chain reaction (PCR) and gene sequencing, and the concentrations of ET-1 in plasma and urine were detected by radioimmunoassay. Results there was no significant difference in the genotyping frequency and allele frequency between rs5370 locus, case group and control group, and between HSPN group and control group (P > 0.05), and there was no significant difference between case group and control group in allele frequency distribution (P > 0.05). Genotyping frequency between HSPN group and control group was observed. There was no significant difference in allele frequency distribution between the two loci (P > 0.05). There was no significant difference in the frequency of binding genotypes between the case group and the control group (P > 0.05.4). Plasma ET-1 concentration in the acute and convalescent stage of the case group was higher than that in the control group. There was significant difference in urine ET-1 concentration between the acute phase and the control group. There was significant difference between the case group and the control group. There was statistical significance between the case group and the control group in the concentration of urinary ET-1. The concentration of ET-1 was 3.16 P0. 006 between the HSPN group and the control group, and the difference was statistically significant between the acute phase and the convalescence stage of the case group (P 0. 026). At the rs5370 site, There was no significant difference in plasma ET-1 concentration between GG genotype GT genotype and TT genotype (P > 0.05), but there was no significant difference in urine ET-1 concentration between GG genotype and GT genotype in case group (P > 0.05). There was no significant difference in plasma and urine ET-1 concentrations between CC / CT genotype and TT genotype (P > 0.05). Conclusion the relationship between the polymorphism of ET-1 rs5370 locus and rs1630736 locus and the pathogenesis and renal damage of Henoch-Schonlein purpura can be determined by simultaneously detecting the concentration of ET-1 in plasma and urine to monitor the progression of the disease.
【學(xué)位授予單位】：暨南大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2012
【分類號】：R725.5

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