蒙古族人MBL基因exonI 54位密码子点突变频率与其血浆含量的相关性  

Correlation between point mutation frequency of MBL gene exonⅠ and plasma MBL concentration in healthy Mongolians

作　　者：贾天军[1] 李萍[1] 张庶民[2] 季建军[1] 赵铁军[1] 

机构地区：[1]河北北方学院实验中心,河北张家口075029 [2]中国药品生物制品检定所血清室,北京100050

出　　处：《细胞与分子免疫学杂志》2004年第3期261-264,共4页Chinese Journal of Cellular and Molecular Immunology

基　　金：河北省自然科学基金资助项目 (No .30 0 377)

摘　　要：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。AIM: To investigate the point mutation at codon 54 of mannose binding lectin (MBL) gene, detect the plasma MBL level, and analyze the correlation between the gene mutation frequency and plasma MBL concentration. METHODS: A method for detecting MBL gene point mutation (PCR RFLP) was established with self-designed primers according to MBL genomic sequence. The plasma MBL concentration was detected by MBL Oliger ELISA kit. RESULTS: The PCR RFLP for detecting the point mutation at codon 54 of MBL gene was established. Frequency of point mutation at codon 54 of MBL gene in healthy Mongolians was 0.18. The plasma MBL concentration was (2.53±1.96)mg/L. There was negative correlation between plasma MBL concentration and MBL gene mutation frequency in Mongolians ( r = -0.641) . CONCLUSION: The established method of PCR RFLP was proved to have high specificity, excellent reproducibility and high sensitivity. The relationship between frequency of mutation at codon 54 of MBL gene and the plasma MBL concentration in healthy Mongolians is negatively correlated.

关 键 词：甘露(聚)糖结合凝集素 PcR—RFLP 蒙古族 突变频率 相关性 

分 类 号：R371[医药卫生—病原生物学]