PCR-RFLP genotyping for exon 1 and promoter region mutations of the human mannose binding lectin (MBL-2) gene.

The Mannose Binding Lectin (MBL) plays an important role in innate immunity and its genetic deficiencies are associated with frequent and prolonged infections. Serum MBL determination may not accurately detect acute phase protein levels and it is also difficult to detect dysfunctional protein. Genotyping of the exon 1 and promoter regions in the MBL gene will provide useful information on the presence of deficiencies in patients. A reproducible PCR-RFLP method is described to accurately detect genotypes of exon 1 and polymorphic haplotypes of the promoter region in the MBL gene.