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目的寻找大骨节病(KBD)2号染色体易感基因,探讨低硒与KBD易感基因的交互作用在KBD发病中的作用。方法采用荧光标记基因扫描方法,对14个STR基因位点在陕西KBD病区患者和病区内对照及非病区外对照人群中的多态性进行分析,找出KBD 2号染色体的易感基因。采用原子荧光光谱法测定病例组、内对照组、外对照组血清硒水平,比较各组血清硒水平的差异,用Logistic回归模型分析低硒与KBD可疑易感基因的交互作用。结果 D2S165与D2S2333两个位点在病例组、病区内对照组与非病区外对照组基因频率分布差异均有统计学意义(P<0.05)。病例组与内对照组的血清硒水平无差异,但均显著低于外对照组,未检出低硒和STR多态性位点之间的交互作用。结论病区人群仍处于低硒状态,但未发现二者的交互作用。
Objective To search for KBD chromosome 2 susceptibility genes and to explore the role of interaction between low selenium and KBD susceptibility genes in the pathogenesis of KBD. Methods The genetic polymorphisms of 14 STR loci in KBD patients in Shaanxi Province and those in control and non-disease control groups were analyzed by fluorescence-labeled gene scanning to find out the susceptibility of KBD chromosome 2 gene. Atomic fluorescence spectrometry was used to determine the serum selenium levels in the case group, the control group and the external contrast group. The differences of serum selenium levels in each group were compared. Logistic regression analysis was used to analyze the interaction between low selenium and susceptable KBD genes. Results The frequencies of D2S165 and D2S2333 genes in the case group, the control group and the non-disease outside the control group were significantly different (P <0.05). Serum selenium levels were not significantly different between the case group and the control group, but were significantly lower than that of the external control group. No interaction between the low-selenium and the STR polymorphic sites was detected. Conclusion The ward population is still in a low selenium state, but no interaction between the two was found.