汉族人维生素D受体基因TruⅠ及FokⅠ多态性及腰椎间盘退变关系.docVIP

汉族人维生素D受体基因TruⅠ及FokⅠ多态性及腰椎间盘退变关系 　 作者：陈为坚　叶伟　丁悦　苏培强　李贵涛　黄东生　刘尚礼 【摘要】 　　［目的］探讨汉族人维生素D受体（vitamin D receptor,VDR）基因多态性与腰椎间盘退变（lumbar disc degeneration,LDD）的关系。［方法］收集182例汉族人静脉血标本和腰椎MRI，其中对照组101例，病例组81例。用聚合酶链反应-限制性片段长度多态性（PCRrestriction fragment length polymorphism,PCRRFLP）法测定2组标本的VDR基因TruⅠ和FokⅠ酶切位点多态性；根据MRI显示的信号差异按Schneiderman分级法确定各个体腰椎间盘的退变程度，分无、轻、中、重4组。分析病例对照组中基因型、等位基因频率的分布规律，分析其中小于45岁（包括45岁）者基因型及基因频率分布与椎间盘退变程度的关系。［结果］对照组中FokⅠ和TruⅠ的等位基因频率分布为：F 59.4%，f 40.6%和T 79.2%,t 20.8%；病例组中FokⅠ和TruⅠ等位基因频率的分布为：F 53.7%，f 46.3%和T 80.9%,t 19.1%，二组中的分布差别无统计学意义，P＞0.05;在MRI分组中VDR基因TruⅠ和FokⅠ酶切位点的基因型和等位基因频率在组中分布差异也无显著性，P＞0.05。［结论］VDR基因TruⅠ和FokⅠ酶切位点多态性和汉族人LDD无关。 【关键词】 维生素D受体基因　单核苷酸多态性 限制性片段长度多态性 腰椎间盘退变 　　Association of vitamin D receptor gene TruⅠ and FokⅠ polymorphisms with lumbar degenerative disc disease in Han nationality∥ 　　Abstract：［Objective］To investigate the association of Vitamin D Receptor（VDR）gene polymorphisms to lumbar disc degneration（LDD）in Han nationality.［Method］Blood samples and MRI from 182 Han people were collected,including 81 patients with LDD and 101 healthy individuals.VDR TruⅠ and VDR FokⅠ polymorphisms were tested by PCRRestriction Fragment Length Polymorphism（PCRRFLP）assay.The level of lumbar disc degeneration in the cases younger than 45 years old（including 45）was determined by the signal intensity on MRI according to Schneidermans classification system,and divided into four groups;no,slight,moderate,and severe degeneration.The distribution of the genotypes and allele frequencies in the casecontrol groups were analyzed;the same distribution rule in the MRI groups were also analyzed.［Result］The frequencies of the VDR FokⅠ and VDR TruⅠalleles in the control group were:F 59.4%,f 40.6%,T 79.2%,t 20.8%,vs.F 53.7%,f 46.3%,T 80.9%,t 19.1% in the patient groups,it showed no statistically difference,P＞0.05;the distribution in the MRI groups had not difference,P＞0.05.［Conclusion］VDR TruⅠ and FokⅠpolymorphisms are not related to LDD in Han nationality. 　　Key word