ABSTRACT
Antithrombin III (AT III) was analyzed by two different methods. Isoelectric focusing was used to screen 3 different populations (southwest Germans, Portuguese, Xavante Indians). The same variant was detected both in the German and the Portuguese populations with frequencies of 0.007 and 0.00024, respectively. Further characterization of this variant was performed by allele specific oligonucleotides. By this means, it was possible to identify the variant as AT III Dublin, originally found in 4 Irish families.
Subject(s)
Antithrombin III/genetics , Isoelectric Focusing , Nucleic Acid Hybridization , Base Sequence , DNA, Single-Stranded , Gene Frequency , Germany , Humans , Molecular Sequence Data , Oligonucleotide Probes , Polymerase Chain Reaction , Portugal , South AmericaABSTRACT
Three-hundred ninety-nine individuals living in seven populations of two Brazilian Indian tribes (Macushi and Içana River Indians) were tested for the phosphoglucomutase 1 (PGM1), properdin factor B (BF), haptoglobin (HP), and alpha-1-antitrypsin (PI) systems. We observed significant internal heterogeneity in the two tribes for the PGM1 alleles and in the Macushi for the HP markers. Frequencies in three of the four systems (the exception being BF) also show clear differences in the Macushi and Içana River Indians. Compared with other ethnic groups, South American Indians generally present high frequencies of PGM1*1B, BF*S, HP*1S, and PI*M3. On the other hand, PGM1*1A, PI*M1, and PI*M2 are reduced, and HP*1F is absent or rare. This is the first report about HP subtypes among American Indians.