title: A novel DI*A allele without the Band 3-Memphis mutation in Amazonian Indians.
abstract: OBJECTIVE
  The blood-group antigens Dia and Dib are carried on erythrocyte band 3 and are defined by a single amino acid substitution at position 854 (Leu for Dia and Pro for Dib). The Band 3-Memphis variant has a point mutation (166A>G) in the SLC4A1 gene, which encodes the amino acid substitution Lys56Glu. Two types of Band 3-Memphis, variants I and II, are distinguished by their susceptibility to covalent labelling with 4,4'-diisothiocyanato-1,2-diphenylethane-2,2'-disulphonic acid (H2DIDS). Memphis II is more readily labelled than Memphis I or normal band 3. It is reported that Memphis II is associated with Dia. In a study designed to determine the frequency of the DI*A/DI*B and 166A>G polymorphisms in different populations in Brazil, we found a new DI*A allele.
  
  
  METHODS
  We studied DNA samples from 70 Amazonian Indians, 71 individuals of Japanese descent, 93 random Brazilian blood donors and 84 blacks with sickle cell disease. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analyses were performed on all samples, using MspI for DI*A/DI*B (exon 19) and MnlI for 166A>G (exon 4). Exon 4 and exon 19 from four outliers were sequenced.
  
  
  RESULTS
  Among Amazonian Indians, DI*A and 166G mutations both had a high frequency (0.57 and 0.54, respectively). In individuals of Japanese descent, these alleles were moderately frequent (0.07 and 0.19, respectively). We identified a new allele with DI*A and 166A (56Lys) in four Amazonian Indians.
  
  
  CONCLUSIONS
  Our results revealed that DI*A does not have a strict association with 166G. They also show the relevance of testing a cohort of different populations.
authors.affiliation: Hemocentro, Faculdade de Medicina, Marília, Sao Paulo, Brazil.
authors.forename: W
authors.initials: W
authors.lastname: Baleotti
authors.forename: M
authors.initials: M
authors.lastname: Rios
authors.forename: M E
authors.initials: ME
authors.lastname: Reid
authors.forename: A
authors.initials: A
authors.lastname: Fabron
authors.forename: J
authors.initials: J
authors.lastname: Pellegrino
authors.forename: S T O
authors.initials: ST
authors.lastname: Saad
authors.forename: L
authors.initials: L
authors.lastname: Castilho
mesh_terms: D000483:Alleles; D000755:Anemia, Sickle Cell / Q000097:blood; D001457:Anion Exchange Protein 1, Erythrocyte; D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D001789:Blood Group Antigens / Q000235:genetics*; D001938:Brazil / Q000208:ethnology; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics; D005787:Gene Frequency; D006801:Humans; D007199:Indians, South American / Q000235:genetics*; D020125:Mutation, Missense; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte; D001789:Blood Group Antigens; C070316:band 3 protein Memphis