DELAYED PROGRESSION TO AIDS BY A MISSENSE ALLELE OF THE CCR2 GENE

摘要

The present invention relates to a CCR2 mutant, designated "CCR2-64I". "CCR2-64I" is a CCR2 gene sequence which has a nucleotide substitution (a G to A substitution) at position 190 (counting from the ATG start codon) such that the valine found position 64 in the wild-type CCR2 amino acid sequence is replaced by an isoleucine. CCR2 is a C-C chemokine receptor and has been implicated as a co-receptor for HIV-1. It has been discovered that the presence of the CCR2-64I allele correlates with a postponement of AIDS outcomes, and that infected individuals who have the CCR2-64I allele are at reduced risk for progression from HIV-1 infection to the development of clinical AIDS and death. Isolated nucleic acid molecule encoding CCR2-64I and the establishment of cell lines that express CCR2-64I provides valuable tools for continuing research on HIV infection. Diagnostic methods for analysis of the allelic frequency of CCR2 wild-type and 64I genes are provided. In addition, antibodies which bind to CCR2-64I, CCR2-64I variants, and CCR2 binding agents represent potential anti-HIV agents.