乙型肝炎病毒感染孪生子宿主遗传因素与临床表型关系的初步研究

目的　以 2 0对HBV感染孪生子和感染高危孪生子为研究对象 ,初步研究宿主遗传因素与乙型肝炎临床表型的关系。方法　采用人基因组短串联重复序列 (shorttandemrepeates ,STR)多态性扫描技术进行孪生子卵型鉴定 ,同时进行HAV、HBV、HCV、HDV、HEV等肝炎标志物检测 ,HBVDNA荧光定量检测及肝功能 (ALT ,AST ,TBil)检测。对临床指标数据进行Fisher′s精确检验 ,在单卵孪生子 (monozygotictwins ,MZ)组、双卵孪生子 (dizygotictwins ,DZ)组、对照 (control)组之间进行比较。结果　单卵孪生子组、双卵孪生子组与对照组两两之间 ,其感染率、HBsAg阳性率、HBeAg阳性率、无症状携带者 (AsC)比率及清除病毒比率差异无显著意义 (P >0 0 5 )。在同病率、疾病表型一致率、血清学模式相同者比率的比较中发现单卵孪生子组与双卵孪生子组之间及单卵孪生子组与对照组之间差异有显著意义 (P <0 0 5 ) ,而双卵孪生子组与对照组之间差异无显著意义 (P >0 0 5 )。另外研究亦发现疾病表型一致率可能与患者年龄及是否进行抗病毒治疗等相关。对于HBV感染高危孪生子 ,出生后立即进行HBIg注射或疫苗接种 ,可阻断HBV感染。 结论　单卵孪生子组其同病率、疾病表型一致率、血清学模式相同者比率显著高于双卵孪生子组以及对照组 ,与

The primary comparative analysis between the host genetic factors and their relationships with clinical phenotype of HBV infected twins

OBJECTIVE: The primary comparative analysis between the host genetic factors and their relationships with clinical phenotype of 20 pairs of HBV infected and high risk twins. METHODS: Zygosity of twins was diagnosed by STR microsatellite polymorphism analysis. To identify the serological model and exclude the evidence of coinfection with other virus, we detected HAV, HBV, HCV, HDV, HEV serological markers by electrochemiluminescence method. HBV DNA level was detected by Lightcycler Fluorescent Quantitative system and Liver function (ALT, AST, TBil) was detected by HITACHI7250 Biochemistry Detection System. The data was analysis by Fisher's exact test to comparatively analyze among the monozygotic twins (MZ), dizygotic twins (DZ) and control groups. RESULTS: The significant difference was found in the concordance rate of disease, concordance of clinical phenotype and serological patterns of HBV infection between the MZ and DZ twins (P < 0.05), it was also found between MZ and control groups (P < 0.05), but not between DZ and control groups (P > 0.05). No significant difference in the concordance of other HBV infection markers was observed (P > 0.05). Concordance of clinical phenotype may be related to patients' age and antivirus therapy. Injection with the HBIg and initiative vaccination right after birth can prevent twins with high risk to infection to be victims. CONCLUSION: The significant difference was found in the concordance rate, concordance of clinical phenotype and serological patterns between MZ and control groups, it was also found between MZ and DZ groups, which is correspond to the opinion of the high concordance of MZ and indicated the host genetic factors may play role in influencing the clinical phenotype, while other factors such as the vaccination may have an effect on the clinical phenotype in some extent.