甘露糖结合蛋白基因突变与乙型肝炎的相关性研究

目的 探讨甘露糖结合蛋白(mannose binding protein,MBP)基因变异与慢性及重型乙型肝炎的相关性.方法 采用基冈扩增和DNA测序方法检测了64名健康人和52例慢性乙肝及62例重型乙肝患者MBP基凶第1外显子的DNA序列,然后与GenBank中参照序列进行比较分析.结果 3组人群中MBP基因仅存在密码子54突变,而无密码子52、57的突变.健康人、慢性乙肝和重型乙肝组密码子54突变率分别为14.1%(9/64)、15.4%(8/52)和35.5%(22/62),前两组间比较差异无统计学意义(P＞0.05),而重型乙肝组密码子54突变率则分别显著高于前两组(X2=7,79,P＜0.01;x2=5.89,P＜0.05).结论 该地区乙肝人群MBP基因仅存在密码子54突变,突变与乙肝慢性化无明显关系,而与重型肝炎的发生有显著相关性.故监测MBP基因突变可作为重型肝炎判断预后的一个可行性指标.

Relationship between the gone mutations of mannose binding protein and the progression of hepatitis B infection

Objective To investigate the relationship between the gene mutations of inannose binding protein (MBP)and the pmgression of hepatitis B.Methods The MBP gene mutations in 52 patients with chronic hepatitis B and 62 paticnIs with severe hepatitis B and 64 HBsAg-negative healthy controls were investigated.The mutations in MBP gene were analyzed by polyInerase chain reaction(PCR)and direct DNA sequencing. Results A mutation of MBP gene codon 54 was found.The mutation frequency in the group of severe hepatitis B(35.5%,22/62)was higher than those in the chronic hepatitis B group (15.4%,8/52) and the HBsAg-negative healthy controls(14.1%,9/64),respeefively,and their difference was significant(x2=7.79,P<0.01;x2=5.89,P<0.05).The difference between the chronic hepatitis B group and the HBsAg-negative healthy control group was not significant(P>0.05).Conclucion There is onlv mut4tion in codon 54 of the MBP gene in patients with hepatitis B infection in the area analyzed.Codon 54 mutation of MBP gene is not related to the persistence of hepatitis B,but it was associated with the progression of hepatitis B infection.