东乡族婴幼儿维生素D受体基因单核苷酸多态性与维生素D缺乏性佝偻病的相关性研究
发布时间：2019-05-07 08:47
【摘要】：目的研究东乡族婴幼儿维生素D受体(VDR)基因单核苷酸多态性(SNP)与维生素D缺乏性佝偻病(佝偻病)的相关性,结合当地地理气候特点,探讨东乡族该病的遗传易感性。运用两种检测基因型和基因频率的方法进行实验,并比较其灵敏度和精确度,为相关研究提供技术支持。 方法采用病例对照研究方法,分别选取确诊的东乡族佝偻病患儿69例和健康东乡族婴幼儿72例作为病例组和对照组,应用高分辨率熔解曲线分析(HRM)技术检测各组不同样本VDR基因ApaI、BsmI、FokI、TaqI位点SNP基因型,运用x2检验比较两组中各基因型的分布频率,从而得出VDR基因这四个位点SNP与东乡族婴幼儿佝偻病的关系。另外运用聚合酶链反应—限制性片段长度多态性(PCR-RFLP)方法检测VDR基因多态性ApaI位点基因型,通过基因测序验证其检测结果与HRM技术检测结果的灵敏性与准确性,比较两种实验方法的优劣。 结果东乡族婴幼儿的VDR基因ApaI位点SNP的不同基因型在病例组和对照组中的分布差异无统计学意义(x2=0.113,P0.05),BsmI位点SNP的不同基因型在病例组和对照组中的分布差异无统计学意义(x2=0.192,P0.05)FokI位点SNP的不同基因型在病例组和对照组中的分布差异有统计学意义(x2=13.716,P0.05),TaqI位点SNP的不同基因型在病例组和对照组中的分布差异无统计学意义(x2=1.022,P0.05)。HRM技术与PCR-RFLP方法的检测结果有明显差异。 结论东乡族婴幼儿VDR基因ApaI、BsmI、TaqI位点SNP与佝偻病发生无明显相关性,FokI位点SNP与佝偻病发病有关,病例组中T/T基因型频率明显高于C/C基因型频率。在VDR基因多态性与佝偻病遗传易感性的研究中HRM技术较PCR-RFLP方法更为灵敏精确。
[Abstract]:Objective to study the relationship between single nucleotide polymorphism (SNP) of vitamin D receptor (VDR) gene and vitamin D deficiency rickets (rickets) in infants of Dongxiang nationality, and to explore the genetic susceptibility of the disease in Dongxiang nationality according to the geographical and climatic characteristics of Dongxiang nationality. Two methods were used to detect genotype and gene frequency, and their sensitivity and accuracy were compared to provide technical support for related research. Methods 69 cases of rickets of Dongxiang nationality and 72 cases of healthy children of Dongxiang nationality were selected as case group and control group by case-control study. High resolution fusion curve analysis (HRM) was used to detect SNP genotype at ApaI,BsmI,FokI,TaqI locus of VDR gene in different samples of each group, and x2 test was used to compare the distribution frequency of each genotype in the two groups. Thus, the relationship between the four loci of VDR gene SNP and rickets in infants of Dongxiang nationality was obtained. In addition, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the ApaI genotype of VDR gene polymorphism. The sensitivity and accuracy of the results of PCR-RFLP and HRM were verified by gene sequencing. The advantages and disadvantages of the two experimental methods were compared. Results there was no significant difference in the distribution of different genotypes of VDR gene ApaI locus SNP between the case group and the control group (x2, 0.113, P0.05). There was no significant difference in the distribution of different genotypes of BsmI SNP between the case group and the control group (x2, 0.192, P0.05). There was a significant difference in the distribution of different genotypes of FokI SNP between the case group and the control group (x2, 13.716, P 0.05). There was no significant difference in the distribution of different genotypes of SNP between the case group and the control group (x2? 1.022, P0.05). There was a significant difference between the), TaqI technique and the PCR-RFLP method. Conclusion there was no significant correlation between SNP of ApaI,BsmI,TaqI locus of VDR gene and rickets in Dongxiang nationality infants, but SNP of FokI locus was associated with rickets. The frequency of genotype T was significantly higher than that of genotype C in the case group. HRM technique is more sensitive and accurate than PCR-RFLP method in the study of VDR gene polymorphism and genetic susceptibility to rickets.
【学位授予单位】：兰州大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R723
本文编号：2470937
[Abstract]:Objective to study the relationship between single nucleotide polymorphism (SNP) of vitamin D receptor (VDR) gene and vitamin D deficiency rickets (rickets) in infants of Dongxiang nationality, and to explore the genetic susceptibility of the disease in Dongxiang nationality according to the geographical and climatic characteristics of Dongxiang nationality. Two methods were used to detect genotype and gene frequency, and their sensitivity and accuracy were compared to provide technical support for related research. Methods 69 cases of rickets of Dongxiang nationality and 72 cases of healthy children of Dongxiang nationality were selected as case group and control group by case-control study. High resolution fusion curve analysis (HRM) was used to detect SNP genotype at ApaI,BsmI,FokI,TaqI locus of VDR gene in different samples of each group, and x2 test was used to compare the distribution frequency of each genotype in the two groups. Thus, the relationship between the four loci of VDR gene SNP and rickets in infants of Dongxiang nationality was obtained. In addition, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the ApaI genotype of VDR gene polymorphism. The sensitivity and accuracy of the results of PCR-RFLP and HRM were verified by gene sequencing. The advantages and disadvantages of the two experimental methods were compared. Results there was no significant difference in the distribution of different genotypes of VDR gene ApaI locus SNP between the case group and the control group (x2, 0.113, P0.05). There was no significant difference in the distribution of different genotypes of BsmI SNP between the case group and the control group (x2, 0.192, P0.05). There was a significant difference in the distribution of different genotypes of FokI SNP between the case group and the control group (x2, 13.716, P 0.05). There was no significant difference in the distribution of different genotypes of SNP between the case group and the control group (x2? 1.022, P0.05). There was a significant difference between the), TaqI technique and the PCR-RFLP method. Conclusion there was no significant correlation between SNP of ApaI,BsmI,TaqI locus of VDR gene and rickets in Dongxiang nationality infants, but SNP of FokI locus was associated with rickets. The frequency of genotype T was significantly higher than that of genotype C in the case group. HRM technique is more sensitive and accurate than PCR-RFLP method in the study of VDR gene polymorphism and genetic susceptibility to rickets.
【学位授予单位】：兰州大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R723
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