RESUMO
A sample of 103 randomly chosen healthy individuals from Alegrete, RS, Brazil, was tested for the CCR5delta32 allele, which is known to influence susceptibility to HIV-1 infection. The CCR5delta32 allele was identified by PCR amplification using specific primers flanking the region of deletion, followed by electrophoresis on a 3 percent agarose gel. The data obtained were compared to those reported for other populations and interpreted in terms of Brazilian history. The individuals studied came from a highly admixed population. Most of them were identified as white (N = 59), while blacks and browns (mulattoes) were N = 13 and N = 31, respectively. The observed frequencies, considering the white, black and brown samples (6.8, 3.8, and 6.4 percent, respectively), suggest an important European parental contribution, even in populations identified as black and brown. However, in Brazil as a whole, this allele shows gradients indicating a relatively good correlation with the classification based on skin color and other physical traits, used here to define major Brazilian population groups.
Assuntos
Humanos , Alelos , Frequência do Gene/genética , /genética , População Negra/genética , Brasil/etnologia , Eletroforese em Gel de Ágar , População Branca/genética , Genótipo , Genética Populacional/métodos , Indígenas Sul-Americanos/genética , Reação em Cadeia da PolimeraseRESUMO
A sample of 103 randomly chosen healthy individuals from Alegrete, RS, Brazil, was tested for the CCR5delta32 allele, which is known to influence susceptibility to HIV-1 infection. The CCR5delta32 allele was identified by PCR amplification using specific primers flanking the region of deletion, followed by electrophoresis on a 3% agarose gel. The data obtained were compared to those reported for other populations and interpreted in terms of Brazilian history. The individuals studied came from a highly admixed population. Most of them were identified as white (N = 59), while blacks and browns (mulattoes) were N = 13 and N = 31, respectively. The observed frequencies, considering the white, black and brown samples (6.8, 3.8, and 6.4%, respectively), suggest an important European parental contribution, even in populations identified as black and brown. However, in Brazil as a whole, this allele shows gradients indicating a relatively good correlation with the classification based on skin color and other physical traits, used here to define major Brazilian population groups.
Assuntos
Alelos , Frequência do Gene/genética , Receptores CCR5/genética , População Negra/genética , Brasil/etnologia , Eletroforese em Gel de Ágar , Genética Populacional/métodos , Genótipo , Humanos , Indígenas Sul-Americanos/genética , Reação em Cadeia da Polimerase , População Branca/genéticaRESUMO
Sickle cell disease (SCD) is an inherited disorder that presents extremely variable clinical manifestations. For the past few decades, it has been approached as an inflammatory disorder, and several researchers have tried to determine the factors involved in such characteristic. In order to contribute to the identification of the genetic differences underlying this phenotypic diversity in SCD, we proposed to study the distribution of polymorphic variants of the genes encoding the chemokine receptors CCR2 and CCR5, as well as three polymorphisms in the NOS3 gene, in Brazilian SCD patients. These genes are involved in the development of inflammatory immune reactions, a feature believed to be of extreme importance in SCD pathology. Our results indicate that the polymorphisms studied here are not directly associated with severe clinical manifestations in SCD patients. Nevertheless, we observed a tendency for the development of a severe clinical course in carriers of the variant alleles CCR2-64I and CCR5delta32 and in homozygotes for the -786C variant of the NOS3 gene. Further studies should be carried out in order to assess the role of such variants in the clinical picture of SCD.
