本文關(guān)鍵詞： 前交叉韌帶 膠原 多態(tài)性 限制性片段長度 組織工程 組織構(gòu)建 中國漢族人群 前交叉韌帶損傷 膠原蛋白基因 COLA COLA COLA 單核苷酸多態(tài)性 易感性　出處：《中國組織工程研究》2017年12期 　論文類型：期刊論文

【摘要】：背景:目前前交叉韌帶損傷發(fā)生的病因尚不清楚,有學(xué)者認(rèn)為內(nèi)部因素和外部因素共同作用導(dǎo)致前交叉韌帶的損傷,而作為內(nèi)部危險(xiǎn)因素之一的遺傳因素逐漸受到人們的重視。有研究顯示,膠原蛋白基因COL1A1,COL5A1和COL12A1與部分高加索人群前交叉韌帶損傷相關(guān)。目的:探索COL1A1,COL5A1和COL12A1基因多態(tài)性與中國漢族人群前交叉韌帶損傷發(fā)生的關(guān)系。方法:收集105名前交叉韌帶損傷的漢族患者和110例無前交叉韌帶損傷史的漢族個(gè)體作為對照,通過限制性片段長度多態(tài)性分析、測序技術(shù)對COL1A1基因內(nèi)含子1區(qū)的rs1800012,COL5A1基因3’-UTR區(qū)的rs12722和rs13946,COL12A1基因外顯子65和29區(qū)的rs970547和rs240736進(jìn)行檢測并分型。結(jié)果與結(jié)論:COL1A1和COL5A1基因的rs1800012,rs12722和rs13946基因型、基因表型及單倍型在前交叉韌帶損傷病例和對照組中未見顯著差異;COL12A1基因的rs970547和rs240736基因型、基因表型及單倍型在前交叉韌帶損傷病例和對照組中未見顯著差異。但在2組男性前交叉韌帶患者中rs970547基因頻率差異有顯著性意義。說明在中國漢族人群,COL1A1基因Sp1結(jié)合位點(diǎn)rs1800012不是中國漢族人群前交叉韌帶損傷發(fā)生的易感位點(diǎn);COL5A1基因rs12722和rs13946與中國漢族人群前交叉韌帶損傷發(fā)生的關(guān)聯(lián)作用不大;COL12A1基因的rs970547和rs240736與中國男性前交叉韌帶損傷有一定相關(guān)性,攜帶有COL12A1基因rs970547 A等位基因及AA基因型的男性個(gè)體可能增加前交叉韌帶損傷的患病風(fēng)險(xiǎn)。
[Abstract]:Background: at present, the etiology of anterior cruciate ligament injury is not clear. Some scholars believe that internal and external factors together lead to anterior cruciate ligament injury. As one of the internal risk factors, genetic factors have been paid more and more attention. Collagen gene COL1A1COL5A1 and COL12A1 were associated with anterior cruciate ligament injury in some Caucasian population. Objective: to investigate the relationship between the polymorphism of COL1A1COL5A1 and COL12A1 gene and the occurrence of anterior cruciate ligament injury in Chinese Han population. Methods: 105 cases of anterior cruciate ligament injury were collected. The Han patients with ligamentous injury and 110 Han individuals with no history of anterior cruciate ligament injury were used as controls. Restriction fragment length polymorphism (RFLP) was used to detect and type rs12722 and rs240736 in rs1800012COL5A1 region of intron 1 of COL1A1 gene and exons 65 and 29 of rs13946COL12A1 gene. Results and conclusion the rs18000rs12722 and rs13946 genotypes of the two genes were analyzed. There was no significant difference in rs970547 and rs240736 genotypes of COL12A1 gene between patients with anterior cruciate ligament injury and control group. There was no significant difference in gene phenotype and haplotype between patients with anterior cruciate ligament injury and control group, but there was significant difference in the frequency of rs970547 gene between two groups of male patients with anterior cruciate ligament injury. Sp1 binding site rs1800012 is not a predisposing site for anterior cruciate ligament injury in Chinese Han population. The association between rs12722 and rs13946 of COL5A1 gene and the occurrence of anterior cruciate ligament injury in Chinese Han population is not significant. The rs970547 and rs240736 of COL12A1 gene are not related to Chinese male anterior cruciate ligament injury. Cruciate ligament injury has some correlation. Individuals with COL12A1 rs970547 A allele and AA genotype may increase the risk of anterior cruciate ligament injury.
【作者單位】： 昆明市第一人民醫(yī)院運(yùn)動(dòng)醫(yī)學(xué)關(guān)節(jié)外科;中國醫(yī)學(xué)科學(xué)院醫(yī)學(xué)生物學(xué)研究所;昆明醫(yī)科大學(xué)第二附屬醫(yī)院骨科;
【基金】：云南省科技計(jì)劃項(xiàng)目(昆醫(yī)聯(lián)合專項(xiàng))(40210029)~~
【分類號】：R684

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