發(fā)布時(shí)間：2018-02-24 22:03

  本文關(guān)鍵詞： 發(fā)育性髖關(guān)節(jié)發(fā)育不良 單核苷酸多態(tài)性 基因型 等位基因 骨 軟骨　出處：《吉林大學(xué)》2017年碩士論文　論文類(lèi)型：學(xué)位論文

【摘要】：目的:本研究旨在篩選發(fā)育性髖關(guān)節(jié)發(fā)育不良的潛在易感基因,通過(guò)基質(zhì)輔助激光解析電離飛行時(shí)間質(zhì)譜技術(shù),對(duì)骨、軟骨發(fā)育的相關(guān)基因的若干Tag SNPs位點(diǎn)進(jìn)行分型,探討其與DDH發(fā)生發(fā)展的相關(guān)性,為DDH的早期診斷與預(yù)防提供分子水平的理論依據(jù)。資料與方法:通過(guò)基質(zhì)輔助激光解析電離飛行時(shí)間質(zhì)譜技術(shù),對(duì)80例DDH患者和80名健康對(duì)照組進(jìn)行基因分型,并分析這些基因多態(tài)性在DDH組與健康對(duì)照組分布特點(diǎn)。結(jié)果:1.SOX9基因rs12601701、rs1042667基因型、等位基因頻率在DDH組及對(duì)照組分布未見(jiàn)統(tǒng)計(jì)學(xué)差異(P0.05),但DDH組AA型基因型頻率(17.5%)較對(duì)照組(31.6%)有明顯的下降趨勢(shì),DDH組患者C-A單體型相對(duì)于對(duì)照組有明顯上升趨勢(shì)(53.7%vs46.3%p=0.062)。在隱性邏輯回歸中,rs1042667多態(tài)性與DDH發(fā)病具有相關(guān)性(P=0.040)。2.SHH基因rs872723位點(diǎn)基因型、等位基因頻率在DDH組及對(duì)照組分布未見(jiàn)統(tǒng)計(jì)學(xué)差異,但DDH組CT型基因型頻率(8.7%)較對(duì)照組(19%)有明顯的下降趨勢(shì),在隱性模型中(CT+CC/TT),rs12601701基因多態(tài)性與DDH患者脫位程度存在相關(guān)性(p=0.029)。3.本研究中COL1A1-rs2269336的基因型與DDH的發(fā)病具有統(tǒng)計(jì)學(xué)意義相關(guān)趨勢(shì)(P=0.054),其中CG型在病例組(32.5%)中明顯低于對(duì)照組(51.2%),CG型可能具有減低DDH發(fā)病風(fēng)險(xiǎn)的趨勢(shì)4.本研究中ASPN-rs13301537位點(diǎn)與DDH發(fā)病風(fēng)險(xiǎn)之間具有統(tǒng)計(jì)學(xué)意義的相關(guān)趨勢(shì)(P=0.083),AG型攜帶者在病例組(32.5%)的分布明顯多于對(duì)照組(17.5%)。AG型可能更容易罹患DDH.臨床表型分析顯示,rs7860786位點(diǎn)在顯性及隱性模型下,與DDH臨床分型具有明顯相關(guān)性(P=0.001 P=0.000)。結(jié)論:SOX9、SHH、COL1A1、ASPN基因多態(tài)性可能與DDH發(fā)病具有相關(guān)性。
[Abstract]:Objective: to screen potential susceptible genes for developmental hip dysplasia and to type several Tag SNPs loci of bone and cartilage related genes by matrix assisted laser desorption ionization time of flight mass spectrometry (TOF-MS). In order to provide the molecular basis for the early diagnosis and prevention of DDH, the data and methods: the matrix assisted laser desorption and ionization time of flight mass spectrometry (TOF-MS) were used. Genotyping was carried out in 80 patients with DDH and 80 healthy controls. The distribution of these polymorphisms in DDH group and healthy control group was analyzed. Results: 1.SOX9 gene rs12601701 / rs1042667 genotype. There was no significant difference in the distribution of allele frequencies between DDH group and control group (P 0.05), but the frequency of AA genotype in DDH group was 17. 5% (P < 0. 05).) there was a significant decrease trend in allele frequency. Compared with the control group, C-A haplotype of patients in DDH group showed a significant increase trend (53.7 vs 46.3%, p0. 062. 2) in DDH group, there was a significant increase in C-A haplotype of patients compared with that in control group (P < 0. 05). The polymorphism of rs1042667 in recessive logistic regression was associated with the pathogenesis of DDH. There was no significant difference in allele frequency between DDH group and control group, but the frequency of CT genotype in DDH group was 8.7%, which was significantly lower than that in control group (19%). In the recessive model, the polymorphism of rs12601701 gene was correlated with the degree of dislocation of DDH patients. The genotype of COL1A1-rs2269336 was significantly correlated with the incidence of DDH in this study. The CG genotype in the case group was significantly lower than that in the control group (P < 0.05). In this study, there was a statistically significant correlation between the ASPN-rs13301537 locus and the risk of DDH. The distribution of AG type carriers in the case group was significantly higher than that in the control group (17. 5%. AG). The clinical phenotypic analysis showed that the rs7860786 locus was in both dominant and recessive models. Conclusion the polymorphism of DDH gene may be associated with the pathogenesis of DDH.
【學(xué)位授予單位】：吉林大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2017
【分類(lèi)號(hào)】：R684

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