PCR-Restriction Fragment Length Polymorphism Method to Detect the X/Y Polymorphism in the Promoter Site of the Mannose-binding Lectin Gene

[摘要] Mannose-binding lectin (MBL), a pattern-recognition molecule produced by the liver and present in serum, is an important player in the innate immune system. MBL acts by binding various carbohydrate structures on microbial surfaces, after which it activates the complement system via the lectin pathway. In addition, MBL can promote direct opsonophagocytosis of microorganisms and modulate diverse inflammatory mediators (1).Deficiency of MBL was first identified in association with a common defect of opsonization in children. Additional studies have identified MBL deficiency as a risk factor for diverse infectious diseases (1). In addition, MBL deficiency has been found to be associated with certain autoimmune diseases (1) and, recently, atherosclerosis (2). MBL deficiency is caused by mutations in the coding and promoter regions of the MBL gene, which have a profound effect on plasma concentrations of the MBL protein.Three point mutations have been found in …

[学科分类] 过敏症与临床免疫学