MOLECULAR STUDY CCR5 GENE (POLYMORPHISM 59029A Y 59353C) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4203

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	27 days
Information:
The discovery of several mutations and polymorphisms in the genes of the HIV-1 chemokine co-receptors has led to a greater understanding of the host genetic factors that play an important role in susceptibility to HIV-1 infection and in the rate of disease progression. The epidemiological effects of a 32 base pair deletion in the CCR5 gene, CCR5 ?32, are well documented: individuals who are homozygous for CCR5 ?32 enjoy considerable protection from infection with HIV-1], whereas those who are heterozygous experience a delay in progression to AIDS and death and are over represented among HIV-1 long-term non-progressors (LTNP). Lower levels of CCR5 receptor expression observed on the cells of CCR5 ?32 heterozygotes have been associated with delayed disease progression and a reduced cellular susceptibility to infection by HIV-1 strains in vitro. Recognition of the heterogeneity existing in the regulatory region of the CCR5 gene has lead to speculation about the influence of regulatory region polymorphisms on CCR5 receptor expression and on the rate HIV-1 disease progression. The mechanism by which another polymorphism, CCR2?64I, leads to delayed HIV-1 progression remains uncertain, but its influence may be mediated by a CCR5 regulatory region polymorphism, CCR5 59653T, which is in strong linkage disequilibrium with CCR2?64. Recently another CCR5 promoter region polymorphism, an A/G polymorphism at position 59029 (Genebank Accession Number U95626) has been associated with altered rates of HIV-1 disease progression.
Links:
Genetic restriction of HIV-1 infection and progressi... [Science. 1996] - PubMed - NCBI
OMIM Entry - - 601373 - CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5

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