甘露糖结合蛋白基因突变与乙型肝炎的相关性研究

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

目的探讨甘露糖结合蛋白（Hlannose binding protein，MBP）基因变异与慢性及重型乙型肝炎的相关性。方法采用基因扩增和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基因第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（x^2=7．79，P〈0．01；x^2=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。

Objective To investigate the relationship between the gene mutations of mannose binding protein （MBP） and the progression of hepatitis B. Methods The MBP gene mutations in 52 patients with chronic hepatitis B and 62 patients with severe hepatitis B and 64 HBsAg-negative healthy controls were investigated. The mutations in MBP gene were analyzed by polymerase 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）, respectively, and their difference was significant （x^2 = 7.79, P 〈 0.01 ;x^2 = 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 only mutation 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.