【摘要】：研究目的本研究主要探討了GC、CYP2R1基因的六個(gè)SNP位點(diǎn)與寧夏回族絕經(jīng)后女性血清維生素D水平的關(guān)系。研究方法本研究以寧夏回族地區(qū)隨機(jī)抽樣的480名回族絕經(jīng)后女性作為研究對象,分別采用Taqman熒光探針法和直接測序法分析了GC、CYP2R1基因的6個(gè)位點(diǎn)的多態(tài)性,采用酶聯(lián)免疫法(Enzyme linked immunosorbend assay,ELISA)測定血清25-羥維生素D的水平,從而分析各位點(diǎn)基因型和單體型與血清25(OH)D水平的關(guān)系。結(jié)果1.寧夏回族絕經(jīng)后女性GC基因、CYP2R1基因的基因型均符合Hardy-Weinberg遺傳平衡,樣本的群體代表性好。2.研究人群中維生素D水平正常者34人,占總研究對象的7.1%;維生素D不足者129人,占總研究對象的26.9%;維生素D缺乏者317人,占總研究對象的66%3.研究人群的GC基因多態(tài)性位點(diǎn)rs2298849、多態(tài)性位點(diǎn)rs222020與血清25(OH)D的水平相關(guān)。rs2298849位點(diǎn)的少見等位基因G與rs222020位點(diǎn)的少見等位基因C可能是血清25(OH)D的保護(hù)性等位基因。4.本研究顯示,CYP2R1基因的多態(tài)性與血清25-羥維生素D水平無相關(guān)性。結(jié)論寧夏回族絕經(jīng)后女性群體中,維生素D的缺乏普遍存在。GC基因多態(tài)性與血清25(OH)D水平顯著相關(guān),CYP2R1基因多態(tài)性與血清25(OH)D水平無相關(guān)性。
[Abstract]:Objective to investigate the relationship between six SNP loci of CYP2R1 gene and serum vitamin D level in postmenopausal women of Ningxia Hui nationality. Methods in this study, a random sample of 480 postmenopausal women from Hui nationality in Ningxia was used to analyze the polymorphisms of six loci of CYP2R1 gene by Taqman fluorescence probe method and direct sequencing method. The serum levels of 25-hydroxyvitamin D were determined by enzyme-linked immunosorbent assay (Elisa), and the relationship between genotype and haplotype and serum 25 (OH) D level was analyzed. Result 1. The genotypes of the GC gene CYP2R1 in the postmenopausal women of Ningxia Hui nationality all accord with the Hardy-Weinberg genetic balance, and the population representation of the sample is good. 2. There were 34 subjects with normal vitamin D level, 129 with vitamin D deficiency and 317 with vitamin D deficiency, accounting for 663 percent of the total study subjects. The polymorphism locus rs2298849 of GC gene was associated with the level of serum 25 (OH) D. The rare allele G of rs2298849 locus and the rare allele C of rs222020 locus might be the protective allele .4of serum 25 (OH) D. This study showed that there was no correlation between CYP2R1 gene polymorphism and serum 25-hydroxyvitamin D level. Conclusion there is a significant correlation between vitamin D deficiency and serum 25 (OH) D level in Ningxia Hui postmenopausal women. There is no correlation between CYP2R1 gene polymorphism and serum 25 (OH) D level.
【學(xué)位授予單位】：寧夏醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2017
【分類號】：R591.44

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