汉族人MBL基因ExonI54位密码子点突变及其血浆含量相关性研究  

The Investigation into the Correlation Between Point Mutation of MBL Coding Gene ExonⅠand MBL Plasma Concentration in Healthy Hans

作　　者：贾天军[1] 李萍[1] 程建君[1] 罗强[1] 张庶民[2] 

机构地区：[1]河北北方学院实验中心,075000 [2]中国药品生物制品检定所血清室

出　　处：《河北北方学院学报（医学版）》2004年第5期22-25,共4页Journal of Hebei North University:Medical Edition

基　　金：河北省自然基金的资助;资助号为 30 0 377

摘　　要：目的 :建立检测MBL基因 5 4位密码子点突变的方法 ,初步调查健康汉族人MBL基因 5 4位密码子点突变的情况 ,检测其血浆MBL含量 ,找出二者的相关性。方法 :根据MBL基因序列设计引物建立MBL基因点突变检测方法即PCR -RFLP ;用MBLOligomerELISA试剂盒测定出血浆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 ,测得健康汉族人基因突变频率为 0 .2 32 1 ;健康汉族人血浆MBL含量的平均值为1 999μg/L ,标准差为 1 5 0 5 ;健康汉族人血浆MBL含量与其编码基因Exon 1 5 4位密码子的点突变频率呈负相关 ,χ2 =4 8.1 0 7,P <0 .0 0 1 ;r =- 0 .6 2。结论 :所建立的MBL的PCR -RFLP测定点突变的方法 ,特异性高 ,重复性好 ,较为灵敏 (最低检出量为 1 6 0 pgDNA) ;初步测定了健康汉族人的基因突变频率及其血浆MBL含量 ,二者呈负相关。Objective:The major aim of this study was to analyze the point mutation at codon 54 in healthy Chinese Hans, measure the plasma level of MBL, and to analyze the association between gene mutation frequency and plasma MBL concentrations. Methods:The method for MBL point mutation detection(PCR-RFLP) was Established with self-designed primers according to MBL genomic sequence; The MBL plasma concentrations were measured by MBL Oliger ELISA kit. Results:The PCR-RFLP for detecting the point mutation at codon 54 of MBL was .founded; the frequency rate of point mutation at codon 54 of MBL coding gene in healthy Hans was 0.2321. The average of plasma MBL concentration was 1999μg/L, SD was 1505.There was negative correlation between MBL concentrations and gene mutation frequency in chinese Hans (χ2=48.107,P<0.001; r=-0.62 ). Conclusion:PCR-RFLP, in detcting point mutation at codon 54 of MBL coding gene has high specificity, excellent reproducibility and more sensitivity.The frequency of mutation at codon 54 of MBL coding gene and the MBL plasma concentrations have been determined in healthy Hans. There is negative correlation between frequencies of point mutation and MBL concentrations in Hans.

关 键 词：汉族人 MBL基因 ExonI 54位 密码子点突变 血浆含量 甘露(聚)糖结合凝集素 

分 类 号：R394[医药卫生—医学遗传学]