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目的 :初步调查健康蒙古族人甘露 (聚 )糖结合凝集素 (MBL)基因 5 4位密码子点突变的情况 ,检测其血浆MBL的含量 ,探讨两者的相关性。方法 :根据MBL基因序列设计引物 ,建立MBL基因点突变的检测方法 (即PCR RFLP)。用MBLOligomerELISA试剂盒测定血浆MBL的浓度。结果 :建立了特异、敏感的检测MBL基因 5 4位密码子点突变的方法 ,测得健康蒙古族人该基因的突变频率为 0 .18;血浆MBL含量的平均值为(2 .5 3± 1.96 )mg/L ,两者呈负相关 (r=- 0 .6 4 1)。结论 :所建立的测定MBL基因 5 4位密码子点突变的PCR RFLP方法 ,特异性高、重复性好、较灵敏 (最低检出量为 16 0pgDNA) ,并证明该基因的突变频率与其血浆MBL的含量呈负相关。
OBJECTIVE: To preliminary investigate the point mutation of codon 44 of Mongolian mannan condensate (MBL) gene in healthy Mongolian people and to detect the content of MBL in plasma and explore their correlation. Methods: According to the sequence of MBL gene, primers were designed to detect the point mutation of MBL gene (ie PCR RFLP). Plasma MBL concentrations were determined using the MBLOligomer ELISA kit. Results: A specific and sensitive method was established to detect the point mutation at codon 44 of MBL gene. The mutation frequency of healthy Mongolian people was 0.18. The mean plasma MBL content was (2. 53 ± 1.96 ) mg / L, the two were negatively correlated (r = - 0.641). CONCLUSION: The established PCR RFLP method for determining the point mutation at codon 44 of MBL gene has high specificity, good reproducibility and sensitivity (the minimum detectable quantity is 160 pgDNA), and proves that the mutation frequency of this gene is similar to that of plasma MBL The content was negatively correlated.