【摘要】：目的探討X線修復(fù)交叉互補(bǔ)(XRCC1)基因rs25487位點(diǎn)多態(tài)性在陜西回族非梗阻性無(wú)精癥人群中的分布及其與非梗阻性無(wú)精癥發(fā)病風(fēng)險(xiǎn)的關(guān)聯(lián)。方法采用聚合酶鏈反應(yīng)-限制性片段長(zhǎng)度多態(tài)性(PCR-RFLP)。方法檢測(cè)79例陜西回族非梗阻性無(wú)精癥患者和82例陜西回族正常對(duì)照男性人群XRCC1基因rs25487位點(diǎn)的基因分型和等位基因頻率,分析其與非梗阻性無(wú)精癥發(fā)病的相關(guān)性。結(jié)果與GG基因型的個(gè)體相比,攜帶GA基因型的個(gè)體患非梗阻性無(wú)精癥的風(fēng)險(xiǎn)是攜帶GG基因型個(gè)體的2.286倍;攜帶AA基因型的個(gè)體患非梗阻性無(wú)精癥的風(fēng)險(xiǎn)是GG基因型個(gè)體的2.202倍;攜帶GA+AA基因型的個(gè)體患非梗阻性無(wú)精癥的風(fēng)險(xiǎn)是GG基因型的2.271倍。與G等位基因相比,攜帶A等位基因的個(gè)體患非梗阻性無(wú)精癥的風(fēng)險(xiǎn)是G基因的1.158倍。結(jié)論 XRCC1基因rs25487位點(diǎn)G→A與陜西回族人群非梗阻性無(wú)精癥發(fā)病風(fēng)險(xiǎn)存在關(guān)聯(lián)。
[Abstract]:Objective to investigate the distribution of rs25487 locus polymorphism of X-ray repair crossover complement (XRCC1) gene in Shaanxi Hui non-obstructive azoospermia and its association with the risk of non-obstructive azoospermia. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used. Methods the genotyping and allelic frequency of XRCC1 gene rs25487 locus were detected in 79 non-obstructive azoospermia patients in Shaanxi Hui nationality and 82 healthy controls in Shaanxi Hui nationality, and the correlation between rs25487 locus and the incidence of non-obstructive azoospermia was analyzed. Results compared with individuals with GG genotype, individuals with GA genotype were 2.286 times more likely to suffer from non-obstructive azoospermia than those with GG genotype, individuals with AA genotype were 2.202 times more likely to develop non-obstructive azoospermia than those with GG genotype. Individuals with GA AA genotypes were 2.271 times more likely to develop non-obstructive azoospermia than those with GG genotypes. Individuals with A allele were 1.158 times more likely to develop non-obstructive azoospermia than those with G allele. Conclusion there is an association between the rs25487 locus of XRCC1 gene and the risk of non-obstructive azoospermia in Shaanxi Hui population.
【作者單位】： 西安交通大學(xué)醫(yī)學(xué)部病理系;西北婦女兒童醫(yī)院生殖中心;西安交通大學(xué)第二附屬醫(yī)院泌尿外科;
【基金】：國(guó)家自然科學(xué)基金資助項(xiàng)目(No.81273018,30700654) 陜西省自然科學(xué)基金資助(No.2015JM8436) 陜西省衛(wèi)生廳基金(No.2012D58) 中央高校基本科研業(yè)務(wù)費(fèi)(No.XJJ2011024)~~
【分類號(hào)】：R698.2

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