Genetic polymorphism in a complement receptor

Abstract

A method and a package for identifying single nucleotide polymorphisms in complement receptor is useful in identifying individual susceptibility to a disease. Complement receptors CR1 and CR2 are active in the immune response and autoimmune diseases. The susceptibility and severity of autoimmune disease is determined by genotyping or phenotyping an individual for complement receptor.

1 . The method of  claim 5  wherein said complement receptor gene encodes for a complement receptor single nucleotide polymorph which is predominant in humans.  
     
     
         2 . A method for correlating the ability of a cell to bind a complement component, and cellular susceptibility to a disease, said method comprising: 
 identifying a complement receptor phenotype of said cell;    quantifying said complement component binding by said cell; and    comparing said complement component binding by said cell to that of a second cell, said second cell having a second complement receptor phenotype.    
     
     
         3 . The method of  claim 2  wherein identifying said complement receptor phenotype utilizes antibody binding.  
     
     
         4 . A method for correlating the ability of a cell to bind a complement component and cellular susceptibility to a disease, said method comprising: 
 identifying a complement receptor genotype of said cell;    quantifying said complement component binding by said cell expressing said complement receptor genotype; and    comparing said complement component binding by said cell and said complement component binding by a second cell, said second cell expressing a second complement receptor genotype.    
     
     
         5 . The method of  claim 4  wherein said complement receptor genotype differs from said second complement receptor genotype by a point mutation.  
     
     
         6 . The method of  claim 5  wherein said complement receptor genotype and said second complement receptor genotype are for CR1.  
     
     
         7 . The method of  claim 5  wherein said complement receptor genotype and said second complement receptor genotype are for CR2.  
     
     
         8 . The method of  claim 5  wherein said point mutation is a silent mutation.  
     
     
         9 . The method of  claim 5  wherein said point mutation is a frame shift mutation.  
     
     
         10 . The method of  claim 5  wherein said point mutation is a missense mutation.  
     
     
         11 . The method of  claim 6  wherein said point mutation is a missense mutation in nucleotide  5932 .  
     
     
         12 . The method of  claim 11  wherein said missense mutation is within a codon for an amino acid selected from the group consisting of alanine and threonine.  
     
     
         13 . The method of  claim 4  wherein said cell is selected from the group consisting of: erythrocyte, B lymphocyte, granulocyte, monocyte, neutrophil and T cell.  
     
     
         14 . The use of a single nucleotide polymorphism in a complement receptor genotype to identify individual susceptibility to a disease.  
     
     
         15 . The use of  claim 14  wherein said disease is selected from the group consisting of: cancer, viral infection, bacterial infection, systemic lupus erythematosus, systemic vasculitis, hemolytic anemia, AIDS, rheumatoid arthritis, systemic sclerosis, glomerulonephritides, Sjogren's syndrome and lepromatous leprosy.  
     
     
         16 . The use of  claim 14  wherein the single nucleotide polymorphism is at a codon 1969.