【摘要】：第一部分GDF-15基因多態(tài)性與地中海貧血鐵過載發(fā)病風(fēng)險(xiǎn)相關(guān)性研究背景和目的GDF-15表達(dá)與地中海貧血鐵過載發(fā)生、發(fā)展及治療等方面有關(guān),本部分研究GDF-15基因rsl058587,rsl059369和rs4808793單核苷酸多態(tài)性(SNP)位點(diǎn)在地中海貧血鐵過載患者及健康人群中的基因分布及頻率,探討rsl058587,rsl059369和rs4808793位點(diǎn)基因多態(tài)性與地中海貧血鐵過載遺傳易感性的關(guān)系,從基因水平為地中海貧血鐵過載的發(fā)病機(jī)制及治療等方面研究提供實(shí)驗(yàn)基礎(chǔ)。方法收集來自廣西地區(qū)的地中海貧血鐵過載患者122例,無鐵過載患者162例,選取128例健康體檢者作為對照組。采用聚合酶鏈反應(yīng)-限制性片段長度多態(tài)性(PCR-RFLP)技術(shù)檢測GDF-15基因rsl058587,rsl059369和rs4808793位點(diǎn)在病例組與對照組的基因分布頻率,用DNA測序法測定對應(yīng)基因序列,以Hardy-Weinberg平衡(HWE)定律檢驗(yàn)納入病例的群體代表性及可比性。SNP等位基因及基因型的分布差異用χ2檢驗(yàn)統(tǒng)計(jì),SNP多態(tài)性與地中海貧血鐵過載發(fā)病風(fēng)險(xiǎn)的關(guān)系用logistic回歸方法分析。結(jié)果三組在性別和年齡構(gòu)成上無統(tǒng)計(jì)學(xué)差異(P0.05),具有可比性。經(jīng)HWE定律檢驗(yàn),rs1059369和rs4808793兩個(gè)位點(diǎn)P值均大于0.05,說明所選的樣本具有群體代表性,而rs1058587位點(diǎn)P值小于0.001,未通過HWE平衡檢驗(yàn)。rs1059369位點(diǎn)三組間的基因型分布差異有統(tǒng)計(jì)學(xué)意義(P0.05);對照組等位基因分布頻率較鐵過載組差異有統(tǒng)計(jì)學(xué)意義(P0.05),無鐵過載組較對照組及鐵過載組等位基因分布頻率均無統(tǒng)計(jì)學(xué)差異(P0.05);鐵過載患者AA及AT基因型頻率較正常組和無鐵過載組顯著增加,地中海貧血鐵過載的發(fā)病風(fēng)險(xiǎn)增加(OR=2.297,95%CI=1.158-3.1014,P=0.002);攜帶A基因型的個(gè)體患鐵過載的風(fēng)險(xiǎn)增加(OR=2.259,95%CI=1.177-3.031,P=0.003);對顯性模型及隱性模型進(jìn)一步分析,等位基因A攜帶頻率(AA+AT)在對照組、無鐵過載組及鐵過載組逐漸升高,有顯著性差異(P=0.005),增加鐵過載的發(fā)病風(fēng)險(xiǎn)(OR=2.553,95%CI=1.177-3.031,P=0.003)。rs4808793位點(diǎn)對照組與無鐵過載組及鐵過載組的基因型分布差異有統(tǒng)計(jì)學(xué)意義(P0.05);兩個(gè)實(shí)驗(yàn)組基因型分布頻率總體無統(tǒng)計(jì)學(xué)差異(P0.05),對照組等位基因分布頻率較無鐵過載組及鐵過載組總體差異有統(tǒng)計(jì)學(xué)意義(P0.05),兩個(gè)實(shí)驗(yàn)組等位基因分布頻率總體無統(tǒng)計(jì)學(xué)差異(P0.05);鐵過載患者CC及CG基因型頻率較正常組和地?zé)o鐵過載組顯著增加,地中海貧血鐵過載的發(fā)病風(fēng)險(xiǎn)增加(OR=1.295,95%CI=0.557-1.631,P=0.005);攜帶CC基因型的個(gè)體患鐵過載的風(fēng)險(xiǎn)增加(OR=1.275,95%CI=0.658-1.589,P=0.016);對顯性模型及隱性模型進(jìn)一步分析,可看到等位基因C攜帶頻率(CC+CG)在對照組、無鐵過載組及鐵過載組逐漸升高,有顯著性差異(P=0.013),增加鐵過載的發(fā)病風(fēng)險(xiǎn)(OR=1.159,95%CI=0.797-1.359,P=0.553)。結(jié)論GDF-15基因多態(tài)位點(diǎn)rs1058587存在GG、CG基因型,以CG型為主,而未發(fā)現(xiàn)CC基因型,極有可能是廣西地區(qū)人群的突變型等位基因頻率極低,檢測標(biāo)本量較小,不足以檢測到突變純合子個(gè)體。GDF-15基因多態(tài)位點(diǎn)rs1059369及rs4808793的多態(tài)性與地中海貧血及鐵過載存在一定相關(guān)性,但rs4808793的多態(tài)性與地中海貧血鐵過載相關(guān)性無統(tǒng)計(jì)學(xué)意義。第二部分GDF-15 SNP基因型與血清GDF-15、EPO、Hepc及鐵代謝相關(guān)性的研究背景和目的GDF-15具有調(diào)節(jié)Hepc的作用,是鐵代謝和紅系生成中的調(diào)節(jié)因子。地中海貧血患者,尤其是重癥患者血清中的GDF-15水平明顯高于正常人群,這表明GDF-15與地中海貧血鐵過載的發(fā)生發(fā)展密切相關(guān),但GDF-15在地中海貧血鐵過載中的機(jī)制及它對預(yù)后的影響仍不清楚,其循環(huán)水平及其基因型與地中海貧血鐵過載的關(guān)系尚不明確,其與地中海貧血鐵過載病變嚴(yán)重程度的關(guān)系對闡明鐵過載的作用機(jī)制至關(guān)重要。因此本項(xiàng)目研究GDF-15在地中海貧血中的水平、與鐵代謝的相關(guān)性,希望能發(fā)現(xiàn)GDF-15與鐵過載的關(guān)系,為鐵過載的診斷增加檢測指標(biāo)。方法疾病組:選取2016年8月至2017年2月廣西醫(yī)科大學(xué)血液內(nèi)科及地貧之家就診的284例地中海貧血患者,其中鐵過載組122例,無鐵過載組162例,男123例,女161例,年齡為0-60歲之間,地中海貧血鐵過載入選病例診斷均符合張之南《血液病診斷及療效標(biāo)準(zhǔn)》第三版及《鐵過載診斷與治療的中國專家共識》。地中海貧血鐵過載組中依賴性輸血患者68例,非依賴性輸血患者54例,所有病例均來自廣西地區(qū),排除合并其它類型貧血、感染性疾病、腫瘤、肝臟及骨疾病等病史。對照組:同期廣西醫(yī)科大學(xué)第一附屬醫(yī)院的健康體檢者128例,男性54例,女74例,均排除貧血、炎癥、腫瘤等病史,納入標(biāo)準(zhǔn):血清鐵蛋白、轉(zhuǎn)鐵蛋白水平處于正常參考區(qū)間,常規(guī)檢查正常者。檢測血清中GDF-15、EPO、Hepc、FER、Tr F水平并用WB驗(yàn)證。結(jié)果經(jīng)檢驗(yàn),對照組、地中海貧血無鐵過載組和地中海貧血鐵過載組的血清Hb、GDF-15、EPO、Hepc、FER、Tr F、Hepc/FER均有顯著性差異(P0.05)。地中海貧血鐵過載組根據(jù)是否依賴輸血分層分為依賴輸血組和非依賴輸血組,兩組間的血清Hb、GDF-15、EPO、Hepc、FER、Tr F、Hepc/FER均有顯著性差異,差異有統(tǒng)計(jì)學(xué)差異(P0.05)。分析GDF-15水平與Hb、EPO、Hepc、FER、Tr F等指標(biāo)的相關(guān)性,發(fā)現(xiàn)所有研究對象血清中GDF-15水平與EPO、Hepc、FER等水平成分呈正相關(guān)(P0.001),而與Hb、Tr F水平、Hepc/FER比值呈負(fù)相關(guān)(P0.001)。GDF-15在地中海貧血患者中急劇升高,與GDF-15基因rs1059369和rs4808793位點(diǎn)基因型及等位基因分布頻率的改變無相關(guān)性,與Hb水平呈負(fù)相關(guān)。結(jié)論1.地中海貧血患者GDF-15水平隨著Hb水平的降低而升高,提示地中海貧血患者GDF-15水平升高與貧血及缺氧有關(guān);2.地中海貧血患者GDF-15水平急劇升高與GDF-15基因多態(tài)位點(diǎn)rs1059369及rs4808793的多態(tài)性無相關(guān)性;3.較GDF-15、Hepc,Hepc/FER是一個(gè)更準(zhǔn)確更優(yōu)良的診斷鐵過載的檢測指標(biāo)。第三部分地中海貧血鐵過載血清糖蛋白糖譜差異研究及意義分析背景和目的鐵過載可以引起多種臟器功能損害,涉及地中海貧血進(jìn)展、療效及預(yù)后。蛋白質(zhì)糖基化修飾是一種常見的翻譯后修飾,在免疫細(xì)胞粘附、信號傳導(dǎo)、結(jié)構(gòu)穩(wěn)定、受體構(gòu)成、細(xì)胞分化發(fā)育及免疫調(diào)控等方面均有重要作用。本部分研究應(yīng)用凝集素集合芯片技術(shù)對地中海貧血鐵過載患者血清樣本進(jìn)行分析,旨在研究其糖蛋白糖譜特征性變化,篩選地中海貧血鐵過載診斷及活動分期相關(guān)特征性糖譜標(biāo)志,為進(jìn)一步診療研究提供思路及基礎(chǔ)。方法實(shí)驗(yàn)主要包含以下步驟:(1)血清低豐度蛋白的收集:等體積混合4組(α地中海貧血鐵過載組、α地中海貧血組無鐵過載組、β地中海貧血鐵過載組和β地中海貧血無鐵過載組)患者血清,使用高豐度蛋白去除柱收集血清低豐度蛋白;(2)將收集的低豐度蛋白經(jīng)除鹽、超濾、測定濃度后處理為待標(biāo)記緩沖液;(3)待測低豐度蛋白CY5標(biāo)記;(4)凝集素芯片的點(diǎn)制及芯片的雜交;(5)芯片掃描、數(shù)據(jù)提取;(6)數(shù)據(jù)統(tǒng)計(jì)采用SPSS16.0,符合正態(tài)分布且方差齊的數(shù)據(jù)采用兩獨(dú)立樣本的均數(shù)t檢驗(yàn),方差不齊者采用非參數(shù)秩和檢驗(yàn)。(7)凝集素印跡技術(shù)檢測AAL、LCA和WGA三種凝集素對血清糖蛋白的親和能力,驗(yàn)證凝集素芯片結(jié)果的可靠性。結(jié)果本次研究中4組樣品中共篩選出34種有統(tǒng)計(jì)學(xué)差異的凝集素陽性親和信號,其中α地中海貧血篩選出19個(gè)差異性凝集素和β地中海貧血篩選出15個(gè)差異性凝集素。α地中海貧血鐵過載組對AAL、LCA、ABL、AMA、MNA-M、DBA、GHA、GSL1、GSL1b4、HAL、GSL2、GNL、PHA-L、PSA、SSA和LAL凝集素的親和力增強(qiáng),而對RCA60、STL和WGA凝集素的親和力減弱;β地中海貧血鐵過載組對ABL、GSL2、LCA、STL、TL、AMA、PSA的親和作用增強(qiáng),而對Con A、GNL、NPL、IRA、HAL、HPL、DSA、MAL-II的親和力減弱。凝集素印跡技術(shù)證明AAL、LCA和WGA三種凝集素對血清糖蛋白的親和能力的結(jié)果與凝集素芯片結(jié)果一致。結(jié)論各種凝集素親和信號變化趨勢各有不同,表示地中海貧血鐵過載發(fā)生過程中不同型別地中海貧血的血清糖蛋白糖鏈結(jié)構(gòu)有復(fù)雜性與特異性的變化,這提示以不同型別血清特征性糖譜作為地中海貧血鐵過載診斷或疾病分型的生物標(biāo)志具備一定的實(shí)驗(yàn)基礎(chǔ)。
[Abstract]:Part 1 the correlation between GDF-15 gene polymorphism and the risk of iron overload in thalassemia and the purpose of GDF-15 expression is related to the occurrence, development and treatment of iron overload in thalassemia. This part studies the GDF-15 gene rsl058587, rsl059369 and rs4808793 single nucleotide polymorphisms (SNP) loci in the iron overload of thalassemia The genetic polymorphism of rsl058587, rsl059369 and rs4808793 loci and the genetic susceptibility to iron overload in thalassemia were investigated to provide experimental basis for the pathogenesis and treatment of iron overload in thalassemia. Methods collected from the Mediterranean region of Guangxi were collected. 122 patients with iron overload, 162 cases of iron free overload, and 128 healthy subjects were selected as the control group. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used to detect the gene distribution frequency of GDF-15 gene rsl058587, rsl059369 and rs4808793 loci in the case group and the control group, and the DNA sequencing method was used to determine the corresponding base. Hardy-Weinberg equilibrium (HWE) law was used to test the distribution differences between the group representative and the comparable.SNP alleles and genotypes by the chi square test. The relationship between the SNP polymorphism and the risk of iron overload in thalassemia was analyzed by the logistic regression method. There was no statistical difference between the three groups in the sex and age composition. By HWE's law, the P values of two loci of rs1059369 and rs4808793 were both greater than 0.05, indicating that the selected samples were representative of the group, while the P value of the rs1058587 site was less than 0.001, and the genotype distribution difference between the three groups of the.Rs1059369 loci was statistically significant (P0.05) without HWE balance test (P0.05); the control group allele scores were statistically significant (P0.05). There was no significant difference in the frequency of distribution between the iron overload group and the iron overload group (P0.05). There was no statistical difference between the iron overload group and the control group and the iron overload group (P0.05). The frequency of AA and AT genotype in the iron overload patients was significantly higher than that in the normal group and the iron overload group, and the risk of iron overload in thalassemia was increased (OR=2.297,95%CI=1.158-3 .1014, P=0.002); the risk of iron overload with A genotype increased (OR=2.259,95%CI=1.177-3.031, P=0.003); further analysis of the dominant and recessive models, the A carrying frequency (AA+AT) of the allele (AA+AT) in the control group, the iron overload group and the iron overload group increased gradually (P=0.005), and increased the risk of iron overload (OR). =2.553,95%CI=1.177-3.031, P=0.003).Rs4808793 locus control group was significantly different from the iron overload group and iron overload group (P0.05), and there was no statistical difference in the genotype distribution frequency of the two experimental groups (P0.05). The frequency of allele distribution in the control group was more than that in the iron overload group and the iron overload group. P0.05, there was no significant difference in the frequency of allele distribution in the two experimental groups (P0.05); the frequency of CC and CG genotype in iron overload patients was significantly higher than that in the normal group and the iron free overload group, and the risk of iron overload in thalassemia increased (OR=1.295,95%CI= 0.557-1.631, P=0.005); the risk of iron overload carrying CC genotype was the risk of iron overload. Increase (OR=1.275,95%CI=0.658-1.589, P=0.016); to further analyze the dominant and recessive models, we can see that the allele C carrying frequency (CC+CG) in the control group, the iron overload group and the iron overload group gradually increase, there is a significant difference (P=0.013), increasing the risk of iron overload (OR=1.159,95%CI=0.797-1.359, P=0.553). Conclusion GDF-15 gene Polymorphic loci rs1058587 exists GG, CG genotype, CG type, and no CC genotypes. It is very likely that the frequency of mutant alleles in Guangxi population is very low and the sample size is small. It is not enough to detect the polymorphism of.GDF-15 gene polymorphisms of rs1059369 and rs4808793 in the mutant homozygote and thalassemia and iron overload. There is a certain correlation, but there is no significant correlation between the polymorphism of rs4808793 and the iron overload of thalassemia. The background and purpose of the study on the correlation between the second part of the GDF-15 SNP genotype and serum GDF-15, EPO, Hepc and iron metabolism is the regulatory factor in the regulation of Hepc. It is a regulatory factor in the formation of iron metabolites and red lines. The serum levels of GDF-15 in patients, especially in severe patients, are significantly higher than those in the normal population, which indicates that GDF-15 is closely related to the development of iron overload in thalassemia, but the mechanism of GDF-15 in the iron overload of thalassemia and its impact on the prognosis are still unclear. The relationship between the circulation level and its genotype and the iron overload of thalassemia It is not clear that the relationship between the severity of thalassemia and the severity of iron overload is essential to elucidate the mechanism of iron overload. Therefore, this project studies the level of GDF-15 in thalassemia and the correlation with iron metabolism. We hope to find the relationship between GDF-15 and iron overload, and increase the detection index for the diagnosis of iron overload. 284 cases of thalassemia were selected from the Department of Hematology of Guangxi Medical University from August 2016 to February 2017, including 122 cases of iron overload group, 162 cases of iron free overload group, 123 men, 161 women and 0-60 years old. The cases of thalassemia iron overloading cases were all conformed to Zhang Zhinan's diagnostic and therapeutic standards for hematological diseases and the standard of curative effect. The Chinese expert consensus of the three edition and < iron overload diagnosis and treatment >. 68 patients with dependent blood transfusion in the thalassemia iron overload group and 54 cases of non dependent blood transfusion, all cases were from Guangxi, excluding other types of anemia, infectious diseases, tumor, liver and bone disease. Control group: the same period of Guangxi Medical University. 128 cases of health checkup in a Affiliated Hospital, 54 men and 74 women, were all excluded from anemia, inflammation, tumor and other diseases. The serum ferritin, transferrin level was in normal reference range, normal subjects were examined. The serum levels of GDF-15, EPO, Hepc, FER, Tr F were tested by WB. The results were tested, the control group, thalassemia was no There were significant differences in serum Hb, GDF-15, EPO, Hepc, FER, Tr F and Hepc/FER (P0.05) in the iron overload group and the iron overload group of thalassemia. There were significant differences between the two groups of serum Hb, GDF-15, EPO, EPO. Statistical difference (P0.05). The correlation between GDF-15 level and Hb, EPO, Hepc, FER, Tr F and other indexes was analyzed. It was found that the level of GDF-15 in the serum of all the subjects was positively correlated with EPO, Hepc, FER and other levels. There was no correlation between the change of genotype and allele distribution frequency of rs1059369 and rs4808793 loci and negative correlation with the level of Hb. Conclusion the level of GDF-15 in 1. thalassemia patients increased with the decrease of Hb level, suggesting that the level of GDF-15 in thalassemia patients was associated with anemia and anoxia, and 2. thalassemia patients had a sharp GDF-15 level. No correlation between the polymorphism of GDF-15 gene polymorphic loci rs1059369 and rs4808793; 3. compared with GDF-15, Hepc, Hepc/FER is a more accurate and better diagnostic indicator of iron overload. The third part of thalassemia iron overload serum glycoprotein sugar spectrum differences and significance analysis background and purpose iron overload can cause a variety of viscera. Functional impairment involves the progression, efficacy and prognosis of thalassemia. Glycosylation is a common post-translational modification, which plays an important role in immune cell adhesion, signal transduction, structural stability, receptor composition, cell differentiation and development, and immunoregulation. The serum samples of patients with anemia of iron overload were analyzed in order to study the characteristic changes of glycoprotein sugar spectrum, screening the diagnosis of thalassemia iron overload and the characteristic glycan markers related to activity stages, and provide ideas and basis for further diagnosis and treatment. The method experiment mainly includes the following steps: (1) the collection of serum low abundance protein: equal volume The mixed 4 groups (alpha thalassemia iron overload group, alpha thalassemia free iron overload group, beta thalassemia iron overload group and beta thalassemia free iron overload group) were used to collect serum low abundance protein with high abundance protein removal column, and (2) the low abundance protein was collected by desalination, ultrafiltration, and the concentration was treated as a pending buffer. Liquid; (3) to test low abundance protein CY5 markers; (4) dot and chip hybridization of agglutinin chips; (5) chip scanning, data extraction; (6) data statistics using SPSS16.0, data consistent with normal distribution and variance of data using two independent samples of the average number of t tests, square difference using non parametric rank sum test. (7) lectin Blotting Technology to detect AAL, LC The affinity of A and WGA three lectins to serum glycoproteins was proved to be reliable. Results in this study, 4 groups of samples were screened out of 34 different agglutinin positive affinity signals, of which alpha thalassemia screened 19 differential agglutinin and beta thalassemia to screen 15 differential coagulabilities. AAL, LCA, ABL, AMA, MNA-M, DBA, GHA, GSL1, GSL1b4, HAL, GSL2, GNL, HAL, and agglutinin affinity. The affinity of HPL, DSA and MAL-II was weakened. Lectin blot technique showed that the affinity of three lectins to serum glycoproteins of AAL, LCA and WGA was consistent with the results of lectin chip. Conclusion the changes of various agglutinin affinity signals are different, indicating the blood of different types of thalassemia in the process of iron overload in thalassemia. The sugar chain structure of the glycoprotein has a complex and specific change, which suggests that the specific glycemic spectrum of different types of sera has a certain experimental basis as a biomarker for the diagnosis of thalassemia iron overload or the classification of disease.
【學(xué)位授予單位】：廣西醫(yī)科大學(xué)
【學(xué)位級別】：博士
【學(xué)位授予年份】：2017
【分類號】：R556.61

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