Genotype and allele frequency of a 32-base pair deletion mutation in the CCR5 gene in various ethnic groups: Absence of mutation among asians and pacific islanders

摘要: Abstract Background: A 32-base pair (bp) deletion mutation in the betachemokine receptor CCR5 gene has been associated with resistance against human immunodeficiency virus type 1 (HIV-1) infection and disease. Large-scale studies conducted among Caucasians indicate that individuals who are homozygous for this (Δ32/Δ32) protected HIV-1 despite multiple high-risk exposures, whereas CCR5/Δ32 heterozygotes have a slower progression to acquired syndrome (AIDS). Objective: To determine genotype allele frequencies of 32-bp ethnically diverse non-Caucasian populations. Methods: DNA, extracted from blood collected between 1980 1997 1912 belonging various ethnic groups, including 363 Caucasians, 303 Puerto Rican Hispanics, 150 Africans, 606 Asians, 490 Pacific Islanders, were analyzed by polymerase chain reaction (PCR)-based assay, using an oligonucleotide primer designed discriminate alleles without restriction endonuclease analysis. Results: The comparative frequency heterozygosity was 61 (16.8%) 17 (5.6%) 9 (1.8%) 0 (0%) Africans. Conclusions: data confirm high Caucasians. Intermediate low-level Δ32 Hispanics Hawaiians could be attributed recent European Caucasian flow. By contrast, inability detect Asians other Islander groups suggests mechanisms responsible these