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收集119例遵义地区汉族人群静脉血标本,其中强直性脊柱炎(ankylosing spondylitis,AS)患者组50例,正常对照组69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)法测定两组标本的维生素D受体(vitamin D recepter,VDR)基因第八内含子Tru9酶切长度多态性,分析AS患者组和正常对照组中基因型频率和基因频率分布规律,分析其与遵义汉族人群AS的关系。结果显示,AS患者组中Tru9 I的等位基因频率为T92.0%、t 8.0%;正常对照组中分布为T 76.8%、t 23.2%;两组中基因型分布差异有统计学意义,P=0.002;说明VDR基因Tru9 I酶切位点多态性和遵义汉族人群的AS发病有关联。
A total of 119 cases of Han nationality blood samples were collected from Zunyi District. 50 patients with ankylosing spondylitis (AS) and 69 normal controls were enrolled in this study. PCR-restriction fragment length polymorphism (PCR-restriction fragment length polymorphism) (PCR-RFLP) method was used to detect the length of the Tru9 digested fragment of the eighth intron of vitamin D receptor (VDR) gene in two groups of patients. The genotypes of AS patients and normal controls Frequency and gene frequency distribution, and analyze its relationship with AS in Han nationality in Zunyi. The results showed that the allele frequency of Tru9 I in AS patients was T92.0% and t 8.0%, respectively. The distribution of T allele in T group was T 76.8% and t 23.2% respectively. There was significant difference in genotype distribution between the two groups P = 0.002, indicating that the polymorphism of Tru9 I site of VDR gene is associated with the pathogenesis of AS in Han nationality of Zunyi.