Estudo do polimorfismo do sistema sangüíneo Diego em

Summary
studied. The DI A allele has had a 3,1% frequency in donors, 1% in the asiatics, 3,6% in
the caucasians and 29,8% in the indians. In the afro-americans group this allele didn’t
occur. Band 3 Memphis was associated with DI A allele in all cases.
The phenotyping and genotyping techniques were in agreement in 100% of
blood donors, the only samples that both of them were used.
Three not described polymorphisms were observed, two of them characterized
by missense mutations. G1314A at exon 12 occurred in asiatics in 5,5% allelic
frequency; at exon 14 a T1770C mutation occurred in the afro-americans and the
caucasians in a 2,7% and 2% allelic frequencies, respectively; at intron 15 a t>c -535
mutation was observed in a caucasian person. Two silent mutations, already described,
were found: G1323A, exon 12 and C1953T, exon 16. It was also observed, among afro-
americans, a missense mutation G2587A codified by exon 19 that causes the change
val862ile at the protein membrane portion.
Based on our results it is possible to conclude that DI A allele occurs in a higher
frequency than was expected in blood donors and caucasians. Due to the
polymorphisms observed the SLC4A1 gene can be considered high polymorphic.
6