本文選題：泌尿系結石 + 壯族　； 參考：《右江民族醫(yī)學院》2017年碩士論文

【摘要】：目的:研究ApoE及與其他部分血脂(TC、TG、LDL-c、HDL-c、ApoA、ApoB)指標的表達水平與桂西壯族人群泌尿系結石的相關性;篩查ApoE基因上是否有存在與桂西壯族人群泌尿系結石相關的單核苷酸多態(tài)性位點;并分析各個單核苷酸多態(tài)性位點中哪些基因型和等位基因有增高桂西壯族人群患泌尿系結石的風險。方法:分別選取來我院就診的100例壯族泌尿系結石患者與100例壯族體檢正常者為實驗組和對照組,采用全自動生化分析儀測量ApoE及其他部分血脂指標(TC、TG、LDL-c、HDL-c、ApoA、ApoB)表達水平,分析各指標在兩組人群中的的差異;采用PCR-直接測序法檢測兩組人群ApoE基因序列,查看是否存在單核苷酸多態(tài)性位點,以及每個位點上各基因型和等位基因頻率在兩組人群間的差異。因ApoE基因前三個外顯子(Exon1,Exon2,Exon3)序列相對較短,檢測Exon1,Exon2和Exon3所有位點序列;因ApoE基因第四外顯子和啟動子附近序列較長,依據NCBI中SNP數據庫的檢索結果,納入ApoE基因啟動子附近rs449647、rs405509位點和第四外顯子區(qū)rs429358和rs7412位點四個位點進行檢測。結果:兩組受檢者的血清ApoA、ApoB和LDL-c水平對比差異無統計學意義,而ApoE及TC、TG、HDL-c水平對比差異有統計學意義。在兩組受檢查者中,未發(fā)現ApoE基因Exon1,Exon2和Exon3上存在單核苷酸多態(tài)性位點。在ApoE基因rs449647和rs7412位點上,兩組人群的基因型、等位基因頻率分布差異均無統計學意義。在ApoE基因啟動子附近的rs405509位點上,兩組人群的基因型頻率分布差異無統計學意義,而等位基因型頻率分布差異有統計學意義,在泌尿結石組中T出現的頻率要顯著高于健康對照組,并且T等位基因相較于A等位基因來說,有增加患泌尿系結石的風險(OR=1.53,95%CI:1.02~2.29,P=0.04)。在ApoE基因第四外顯子中的rs429358位點上,兩組人群的基因型和等位基因頻率分布差異均有統計學意義,在泌尿結石組中TC基因型出現的頻率要顯著高于健康對照組,并且TC基因型相較于TT基因型來說,TC基因型有顯著增加患泌尿系結石的風險(OR=2.84,95%CI:1.32~6.14,P=0.006),此外,在泌尿結石組C等位基因出現頻率要顯著高于健康對照組,并且C等位基因相較于T等位基因來說,有顯著增加患泌尿結石的風險(OR=2.57,95%CI:1.32~5.35,P=0.01)。結論:在桂西壯族人群中,高ApoE、TC、TG、水平及低HDL-c水平與泌尿系結石形成相關,而血清ApoA、ApoB和LDL-c水平與泌尿系結石不相關。此外在ApoE基因第1、2、3外顯子上未發(fā)現與桂西壯族人群泌尿系結石相關的單核苷酸位點。ApoE基因上啟動子區(qū)附近的rs405509和第四外顯子上的rs429358位點的基因多態(tài)性與桂西壯族人群泌尿系結石存在相關性,rs405509位點上的T等位基因和rs429358位點上的TC基因型、C等位基因均是桂西壯族人群泌尿系結石發(fā)病的易感因子。
[Abstract]:Objective: to study the correlation between the expression of ApoE and TCG-TGG LDL-cApoB and urinary tract stones in Zhuang nationality of western Guangxi, and to screen for the existence of single nucleotide polymorphism (SNP) in the ApoE gene associated with urinary tract stones in Zhuang nationality in western Guangxi. The genotypes and alleles of each single nucleotide polymorphism locus (SNP) were analyzed to increase the risk of urinary calculi in Guanxi Zhuang population. Methods: 100 patients with urolithiasis of Zhuang nationality and 100 healthy persons of Zhuang nationality were selected as experimental group and control group respectively. ApoE and other blood lipid indexes were measured by automatic biochemical analyzer. To analyze the differences of each index in the two groups, and to detect the sequence of ApoE gene by PCR-direct sequencing method, to see if there is a single nucleotide polymorphism locus (SNP) in the two groups. And the frequency of each genotype and allele at each locus was different between the two groups. Because the first three exons of ApoE gene exon 1, exon 2, exon3) were relatively short, all the sequences of Exon1 exon2 and Exon3 were detected, and because of the long sequence near exon 4 and promoter of ApoE gene, according to the results of SNP database retrieval in NCBI, Four loci of rs449647, rs405509 and rs429358 and rs7412 in exon 4 of ApoE gene were detected. Results: there was no significant difference in serum ApoA ApoB and LDL-c levels between the two groups, but there were significant differences in ApoE and TCU TGV HDL-c levels between the two groups. No single nucleotide polymorphisms were found in ApoE gene Exon1 exon2 and Exon3 in the two groups. At the rs449647 and rs7412 loci of ApoE gene, there was no significant difference in genotype and allele frequency distribution between the two groups. At the rs405509 locus near the promoter of ApoE gene, there was no significant difference in genotype frequency distribution between the two groups, but there was significant difference in allele frequency distribution between the two groups. The frequency of T in urolithiasis group was significantly higher than that in healthy control group, and T allele increased the risk of urinary calculi compared with A allele. In the rs429358 locus of exon 4 of ApoE gene, there were significant differences in genotype and allele frequency between the two groups, and the frequency of TC genotype in urolithiasis group was significantly higher than that in healthy control group. Compared with TT genotype, TC genotype significantly increased the risk of urinary calculi. In addition, the frequency of allele C in urolithiasis group was significantly higher than that in healthy control group, and the frequency of allele C in urolithiasis group was significantly higher than that in healthy control group. Compared with T allele, C allele has significantly increased the risk of urinary calculi. Conclusion: in the Zhuang nationality of western Guangxi, the high ApoEG and low HDL-c levels were correlated with the formation of urinary calculi, but the serum ApoAP-ApoB and LDL-c levels were not correlated with urinary calculi. In addition, there was no single nucleotide locus associated with urinary system stone in the exon 1 of ApoE gene. The polymorphism of rs405509 near the promoter region of ApoE gene and the rs429358 locus on exon 4 were not found in Guanxi Zhuang nationality. The T allele at rs405509 locus and the TC genotype C allele at rs429358 locus were all the susceptible factors of urinary calculi in Zhuang nationality in western Guangxi.
【學位授予單位】：右江民族醫(yī)學院
【學位級別】：碩士
【學位授予年份】：2017
【分類號】：R691.4

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