慢性乙型肝炎患者DC-SIGN启动区变异分析(英文)

Mutation analysis of DC-SIGN promoter in chronic hepatitis B patients

目的:了解慢性乙型肝炎(chronic hepatitis B,CHB)患者与既往乙型肝炎病毒(hepatitis B virus,HBV)感染者体内树突状细胞特异性细胞间黏附分子-3结合非整合素因子(dendritic cell-specific intercellularadhension molecule-3-grabbing nonintegrin,DC-SIGN)启动区基因变异情况,探讨DC-SIGN启动区基因变异与HBV的关系。方法:采用PCR,单链构象多态性与异源性分析,及分子克隆、测序、比对等方法对47例CHB患者与20例既往HBV感染者体内DC-SIGN启动区基因变异进行分析。结果:HBV感染者体内特异性的DC-SIGN启动区存在基因变异。在CHB患者,DC-SIGN启动区有4个位点出现突变(-139,-142,-222,-336)。然而在既往HBV感染者,仅-139位点出现突变。11例CHB患者表现为-336C(23.40%),但是在既往HBV感染者未观察到该表现型。所有的既往HBV感染者均表现为-139T(100%),而仅34.04%的CHB患者表现为-139T。结论:DC-SIGN启动区内-336C表现型可能是CHB的危险因素之一,而-139T表现型可能具有增强机体对抗HBV的作用。

Objective To investigate whether there is mutation in DC-SIGN promoter region in patients with chronic hepatitis B（CHB） and healthy persons previously infected with hepatitis B virus（HBV） and to explore the relationship between the mutation in dendritic cell-specific intercellular adhension molecule-3-grabbing nonintegrin（DC-SIGN） promoter region and HBV.Methods The studied population was composed of two cohorts： 47 CHB patients and 20 healthy persons previously infected with HBV.The mutation in DC-SIGN promoter region was detected with PCR,single-stranded conformational polymorphism and heteroduplex analysis,cloning,sequencing and aligning the published DC-SIGN promoter sequence.Results The characteristic mutation within DC-SIGN promoter region in HBV infected individuals was observed.In the DC-SIGN promoter region,4 hot spot mutations located in positions-139,-142,-222,and-336 were observed in the CHB patients,but only 1 spot mutation located in position-139 was observed in the healthy persons previously infected with HBV.The-336C which was absent in the healthy persons previously infected with HBV was shown in 11 CHB patients（23.40%）.The-139T was far more frequent in the healthy persons previously infected with HBV（100%） than in the CHB patients（34.04%）.Conclusion In the DC-SIGN promoter region,-336C may be a genetic risk factor for developing CHB,but-139T may be associated with protection against HBV.