Estudo molecular dos alelos DI A/DI B e da banda 3-memphis na população brasileira

AUTOR(ES)
DATA DE PUBLICAÇÃO

2002

RESUMO

The Diego blood group system consists of21 antigens located on band 3 of the red blood cell membrane. It includes the 4 antithetical antigens Dia / Dib and Wra / Wrb, and 17 low incidence antigens. The Dia phenotype results from a point mutation at nucleotide 2561 (T>C) leading to a single amino acid substitution from Leu (Dia) to Pro (Dib) in position 854. Dib is a high incidence antigen while Dia has low incidence among Caucasians but is particularly common among American Indians and Japanese. The Memphis variants of band 3 result from a point mutation 166 A>G in SLC4Al leading to an amino acid substitution (56 Lys>Glu). There appears to be a strong association of Memphis (56Glu) with Dia (854Leu) among Native Americans. The initial aim of this study was to determine the frequency of Diego (DI A/DI B) and Memphis (166A>G) mutations in the Brazilian population. We studied samples from 70 Amazonian Indians, 71 individuals of Japanese descent, 93 regular blood donors and 84 Sickle Cell Disease patients by PCR-RFLP. PCR assays were designed to amplify a sequence of 149 bp from exon 18 (DI A/DI B alleles), and of 84 bp from exon 3 SLC4Algene that determine band 3-Memphis. Al1eles were identified by digestion of amplified products with the restriction enzymes Msp I to discriminate DI A from DI B in exon 18, and Mnl I to identify band 3-Memphis in exon 3. Both the DI A allele and band 3-Memphis had high gene frequency among Amazonian Indians (0.571 and 0,543, respectively). Unexpectedly, four Amazonian Indians had the DI A allele without the band-3 Memphis mutation

ASSUNTO(S)

antigenos genes imunoglobulinas

ACESSO AO ARTIGO

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