AvaliaÃÃo da mutaÃÃo ccr5A32 do receptor da B â quimiocina como marcador genÃtico-histÃrico na populaÃÃo de Triunfo Pernambuco / AvaliaÃÃo da mutaÃÃo ccr5A32 do receptor da B â quimiocina como marcador genÃtico-histÃrico na populaÃÃo de Triunfo Pernambuco

AUTOR(ES)
DATA DE PUBLICAÇÃO

2008

RESUMO

The CMKBR5 encodes a 7-transmembrane G-protein-coupled chemokine receptor (CCR5) in macrophages and lymphocytes. A 32 base pair deletion in the coding region of the ccr5 gene has been reported in individuals, homozygous for this deletion, who seem to be resistant to HIV-1 infection. This mutation has a single recent origin in Northeastern Europe, where the higher frequencies are observed (16% Finland). There are isolated occurrences throughout the globe, but they result from recent gene flow to those populations. In the present study a sample of 345 individuals from Triunfo, a city in the state of Pernambuco, in the Brazilian northeast was investigated for the ccr532 allele. The ccr5 alleles were amplified into 193 base pair fragments and the mutant ccr532 alleles were amplified into 161 base pair fragments. We detected 89.28% of ccr5/ccr5, 10.72% of ccr5/Q32, but no homozygous Q32/Q32 individuals were found. The frequency of the mutant allele is 0.0536. The population is under Hardy-Weinberg equilibrium (p= 0,61). The ccr532 frequency found in Triunfo may be due to a genetic drift process or may be result of a founder effect

ASSUNTO(S)

genetica humana e medica ccr5q32 ccr5#32 mutation populaÃÃo de triunfo mutaÃÃo triunfo population ccr5 ccr5

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