本文選題：哈薩克民族 + CETP基因　； 參考：《新疆醫(yī)科大學》2017年碩士論文

【摘要】：目的:了解新疆哈薩克民族CETP基因A373P、c.*84GA突變位點多態(tài)性與血脂水平及高脂血癥中醫(yī)證型的關系。方法:方法:新疆烏魯木齊周邊地區(qū)作為調(diào)查點,采用隨機整群抽樣的方法,對哈薩克族居民聚集的社區(qū)、鄉(xiāng)村等進行采樣。按高脂血癥流行病學調(diào)查方法制定調(diào)查表。抽血檢測血清總膽固醇(TC)、甘油三(TG)、高密度脂蛋白膽固醇(HDL-C)、低密度脂蛋白膽固醇(LDL-C)。提取基因組DNA,用聚合酶鏈反應限制性片段長度多態(tài)性(PCR-RFLP)對218例新疆地區(qū)哈薩克族高脂血癥患者和230例健康對照者進行CETP因分型,并對其血脂水平進行檢測。對218例高脂血癥患者進行中醫(yī)辯證分型,比較其基因型與血脂水平及中醫(yī)證型之間的關系。結(jié)果:448例受試者全部完成測試進入結(jié)果分析(1)共檢出膽固醇酯轉(zhuǎn)移蛋白的2個位點3種基因型AA、AG、GG,以GG基因型頻率最高,新疆哈薩克民族高脂血癥組中rs5880(c.*84GA)位點AA,AG和GG基因型頻率分別為0例,11例和206例,高脂血癥組中A和G的等位基因頻率分別為2.5%和97.5%,健康對照組中A和G的等位基因頻率分別為3.7%和96.3%。(2)新疆哈薩克民族CETP基因A373P基因型高脂血癥組和健康對照組之間血漿TC,LDL-C有差異。rs1801706位點高脂血癥中G等位基因攜帶者(AG、GG基因型)較非G等位基因攜帶者(AA基因型)有更高的血漿TC和LDL-C水平(P0.05);(3)rs1801706位點GG基因型中痰濁阻遏證最多有71例;其次為肝腎陰虛和脾腎陽虛占該基因型20.1%和15.3%。AG基因型中痰濁阻遏最多16例。AA基因型所有證型都很少,肝腎陰虛2例,痰濁阻遏1例。進一步統(tǒng)計學分析表明在GG、AA、AG基因型構(gòu)成比中存在差異,痰濁阻遏高于肝腎陰虛,肝腎陰虛高于脾腎陽虛,脾腎陽虛高于氣滯血瘀,氣滯血瘀高于陰虛陽亢。結(jié)論:新疆地區(qū)轉(zhuǎn)脂蛋白基因A373P、c.*84GA多態(tài)性與高脂血癥水平可能不相關,A373P基因型GG與高脂血癥痰瘀互阻可能相關。
[Abstract]:Objective: to investigate the relationship between the polymorphism of CETP gene A373Pnlc. 4GA mutation and hyperlipidemia and hyperlipidemia in Xinjiang Kazakh nationality. Methods: the area around Urumqi, Xinjiang, was sampled by random cluster sampling in the communities and villages where Kazakh residents gathered. The questionnaire was made according to the epidemiological investigation method of hyperlipidemia. Serum total cholesterol (TC), triglyceride (TG), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C) were measured. Genomic DNAs were extracted and CETP typing was performed in 218 Kazak patients with hyperlipidemia and 230 healthy controls by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Two hundred and eighteen patients with hyperlipidemia were divided into two groups, and the relationship between genotype, blood lipid level and TCM syndromes was compared. Results all the 448 subjects completed the test and entered the analysis of the results. A total of 2 loci and 3 genotypes of cholesterol ester transfer protein (AAGG) were detected, with the highest frequency of GG genotypes. In Xinjiang Kazak ethnic hyperlipidemia group, the genotype frequencies of rs5880 and GG genotypes of AAAG and GG were 0 cases and 206 cases, respectively. The frequencies of A and G alleles in hyperlipidemia group were 2.5% and 97.5%, respectively, and the frequencies of A and G alleles in healthy control group were 3.7% and 96.33%, respectively.) Xinjiang Kazakh CETP gene A373P genotype hyperlipidemia group and healthy control group The plasma TC and LDL-C levels of G allele carriers of G allele in hyperlipidemia were significantly higher than those of non-G alleles carriers (AA genotype). There were 71 cases of turbid phlegm repressions in GG genotypes at GG locus 1801706. Secondly, deficiency of liver and kidney yin and deficiency of spleen and kidney yang accounted for 20.1% of the genotype. In the genotype of 15.3%.AG, there were 16 cases of phlegm turbid repress. All the syndrome types of AA genotype were few, liver and kidney yin deficiency in 2 cases, phlegm turbid repress in 1 case. Further statistical analysis showed that there were differences in the genotype composition ratio of GGG AA-AG, phlegm turbid repressor was higher than liver and kidney yin deficiency, liver and kidney yin deficiency was higher than spleen and kidney yang deficiency, spleen and kidney yang deficiency was higher than Qi stagnation and blood stasis, Qi stagnation and blood stasis was higher than yin deficiency and yang hyperactivity. Conclusion: there may be no correlation between the polymorphism of translipoprotein gene A373P and the level of hyperlipidemia in Xinjiang area. The GG genotype of A373P may be associated with phlegm and blood stasis resistance of hyperlipidemia.
【學位授予單位】：新疆醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2017
【分類號】：R259

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