VDR基因多态性与宁夏回汉族白癜风患者的相关性研究

发布时间：2018-10-30 11:53

【摘要】：目的研究VDR基因FokI、BsmI、TaqI及ApaI位点与宁夏地区回汉族白癜风患者遗传易感性的关系，为揭示宁夏回汉族人群白癜风发病机理及遗传特点提供可靠实验室依据。方法采用聚合酶链式反应-限制性内切酶片段长度多态性（PCR-RFLP）技术对宁夏地区251例白癜风患者及263例对照组的VDR基因FokI、BsmI、ApaI及TaqI位点多态性的频率分布进行检测。数据使用SPSS13.0统计软件处理， P＜0.05认为有显著性差异。结果①宁夏回族白癜风患者组与汉族白癜风患者组的比较中，回族白癜风患者FokI位点F等位基因的频率要高于汉族白癜风患者，而f等位基因的频率低于汉族白癜风患者，分布有统计学差异（P㩳0.05）。②宁夏回族白癜风患者携带BsmI位点的bb基因型的分布频率高于宁夏回族正常人群，而Bb基因型的频率低于宁夏回族正常人群，分布均有统计学差异（P0.05），另外我们又比较了宁夏地区总白癜风患者和总正常人群BsmI位点基因的分布频率，发现bb基因型及b等位基因的分布频率高于总正常人群，Bb基因型及B等位基因的分布频率低于总正常人群，分布均有统计学差异（P0.05）。③汉族及回族白癜风患者中aa基因型、突变的a等位基因明显高于对照组，而AA、Aa基因型、A等位基因的分布频率则低于正常人群，，分布频率具有统计学意义（P㩳0.05）。④TaqI位点TT、Tt基因型及T等位基因在宁夏地区回族白癜风患者的分布频率高于回族正常人，而tt基因型、t等位基因在回族白癜风患者的分布频率低于回族正常人群。TaqI位点T等位基因在宁夏地区汉族白癜风患者的分布频率高于汉族对照人群，t等位基因的分布频率明显低于汉族对照人群。在总白癜风患者组中，TT、Tt基因型高于正常人群，tt基因型低于正常人群。分布频率具有统计学意义（P㩳0.05）。结论1.FokI位点突变的等位基因f可能是回族白癜风的保护因素。2.BsmI位点的bb基因型可能是宁夏地区回族白癜风患者的易感因素，而Bb基因型可能是宁夏地区回族人群中白癜风发病的保护因素；b等位基因可能是宁夏地区人群白癜风的易感基因，B等位基因可能是宁夏地区人群白癜风发生的保护因子。3.ApaI位点的aa基因型、突变的a等位基因可能是宁夏地区人群的易感基因， AA、Aa基因型和A等位基因可能是宁夏地区人群白癜风的保护因素。4.TaqI位点的TT、Tt基因型可能与宁夏地区回族白癜风患者的易感基因，T等位基因是汉族白癜风患者的易感基因。
[Abstract]:Objective to study the relationship between the FokI,BsmI,TaqI and ApaI loci of VDR gene and the genetic susceptibility of Hui Han patients with vitiligo in Ningxia, and to provide a reliable laboratory basis for revealing the pathogenesis and genetic characteristics of vitiligo in Hui Han population of Ningxia. Methods Polymerase chain reaction-restriction endonuclease fragment length polymorphism (PCR-RFLP) was used to detect the frequency distribution of VDR gene FokI,BsmI,ApaI and TaqI loci in 251 patients with vitiligo and 263 controls in Ningxia. The data were processed by SPSS13.0 statistical software (P < 0. 05). Results 1 the frequency of FokI locus F allele in Hui patients with vitiligo was higher than that in patients with vitiligo of Han nationality, and the frequency of f allele was lower than that of patients with vitiligo of Han nationality. 2the frequency of bb genotype with BsmI locus in Ningxia Hui vitiligo patients was higher than that in Ningxia Hui normal population, but the frequency of Bb genotype was lower than that of Ningxia Hui normal population. In addition, we compared the distribution frequency of BsmI locus gene between patients with total vitiligo and general normal population in Ningxia area. We found that the distribution frequency of bb genotype and b allele was higher than that of general normal population. The distribution frequency of Bb genotype and B allele was lower than that of the general normal population (P0.05). 3 aa genotype and a allele mutation in Han and Hui patients with vitiligo were significantly higher than those in the control group, while AA, was significantly higher than that in the control group. The distribution frequency of Aa genotype and A allele was significantly lower than that of normal population (P0. 05). TT, at 4TaqI locus was significantly lower than that in normal controls (P0. 05). The distribution frequency of Tt genotype and T allele in Hui patients with vitiligo in Ningxia was higher than that in Hui normal people, while tt genotype. T allele distribution frequency in Hui patients with vitiligo was lower than that in Hui normal population. The T allele frequency of TaqI locus was higher in Han patients with vitiligo than that in controls. T allele frequency was significantly lower than that of Han population. In the total vitiligo group, TT,Tt genotype was higher and tt genotype was lower. The distribution frequency was statistically significant (P0. 05). Conclusion the allele f of 1.FokI locus mutation may be the protective factor of vitiligo in Hui nationality, and the bb genotype of 2.BsmI locus may be the predisposing factor of vitiligo in Hui nationality in Ningxia area. Bb genotype may be the protective factor of vitiligo in Hui nationality in Ningxia. The B allele may be the susceptible gene of vitiligo in Ningxia population, and the B allele may be the protective factor of vitiligo in Ningxia area. The aa genotype of 3.ApaI locus. The allele a of mutation may be the susceptible gene of population in Ningxia, the genotype of AA,Aa and allele A may be the protective factor of vitiligo in Ningxia. TT, of 4.TaqI locus Tt genotype may be associated with the susceptibility gene of Hui patients with vitiligo in Ningxia area, and T allele is the susceptible gene of vitiligo patients in Han nationality.
【学位授予单位】：宁夏医科大学
【学位级别】：硕士
【学位授予年份】：2013
【分类号】：R758.41

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