Screening for a CD45 point mutation which indicates altered immunological function

摘要

A method of screening a human subject for an altered immune response capability which comprises screening the CD45 gene (PTPCR gene) for the presence or absence of a A to G single nucleotide polymorphism (SNP) at position 138 (A138G) of exon 6 which produces a threonine to alanine amino acid substitution at position 47 of exon 6 (Thr47Ala; T47A). The mutation produces altered patterns of CD45 mRNA and protein isoform expression. The presence of the mutant allele indicates a more vigorous response to infection by pathogens, for example hepatitis B virus (HBV) and absence of the mutation indicates who reduced susceptibility to autoimmune disease, for example Graves disease or Hashimoto's thyroiditis. The point mutation is more common in Mongoloid races and is preferably screened for using ARMS PCR. A set of PCR primers are also claimed.