骨、软骨发育相关基因标签SNPs与DDH发病风险相关性研究

发布时间：2018-02-24 22:03

本文关键词： 发育性髋关节发育不良单核苷酸多态性基因型等位基因骨软骨　出处：《吉林大学》2017年硕士论文　论文类型：学位论文

【摘要】：目的:本研究旨在筛选发育性髋关节发育不良的潜在易感基因,通过基质辅助激光解析电离飞行时间质谱技术,对骨、软骨发育的相关基因的若干Tag SNPs位点进行分型,探讨其与DDH发生发展的相关性,为DDH的早期诊断与预防提供分子水平的理论依据。资料与方法:通过基质辅助激光解析电离飞行时间质谱技术,对80例DDH患者和80名健康对照组进行基因分型,并分析这些基因多态性在DDH组与健康对照组分布特点。结果:1.SOX9基因rs12601701、rs1042667基因型、等位基因频率在DDH组及对照组分布未见统计学差异(P0.05),但DDH组AA型基因型频率(17.5%)较对照组(31.6%)有明显的下降趋势,DDH组患者C-A单体型相对于对照组有明显上升趋势(53.7%vs46.3%p=0.062)。在隐性逻辑回归中,rs1042667多态性与DDH发病具有相关性(P=0.040)。2.SHH基因rs872723位点基因型、等位基因频率在DDH组及对照组分布未见统计学差异,但DDH组CT型基因型频率(8.7%)较对照组(19%)有明显的下降趋势,在隐性模型中(CT+CC/TT),rs12601701基因多态性与DDH患者脱位程度存在相关性(p=0.029)。3.本研究中COL1A1-rs2269336的基因型与DDH的发病具有统计学意义相关趋势(P=0.054),其中CG型在病例组(32.5%)中明显低于对照组(51.2%),CG型可能具有减低DDH发病风险的趋势4.本研究中ASPN-rs13301537位点与DDH发病风险之间具有统计学意义的相关趋势(P=0.083),AG型携带者在病例组(32.5%)的分布明显多于对照组(17.5%)。AG型可能更容易罹患DDH.临床表型分析显示,rs7860786位点在显性及隐性模型下,与DDH临床分型具有明显相关性(P=0.001 P=0.000)。结论:SOX9、SHH、COL1A1、ASPN基因多态性可能与DDH发病具有相关性。
[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.
【学位授予单位】：吉林大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R684

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