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|Type:||Artigo de periódico|
|Title:||Presence Of Allele α(lely) In An Amazonian Indian Population|
|Abstract:||Allele α(LELY) is a low-expression allele of the erythroid spectrin α- chain that is characterized by a C → G mutation at position α1857 in exon 40 and a C → T (nt -12) mutation in intron 45. This second mutation is probably responsible for the partial skipping of exon 46. This exon is essential for the nucleation of the α-chains by the β-chains during erythropoeisis. Although allele α(LELY) remains asymptomatic in both heterozygotes and homozygotes, it enhances the expression of deleterious α- alleles that occur and, as such, has clinical importance. In this study, the frequency of allele α(LELY) was estimated in two ethnically different Brazilian populations: a random sample of blood donors from Campinas, a city located in Sao Paulo State, in the southeastern region of Brazil, and a sample of Parakana Indians (Tupi tribe), a very isolated population with a high degree of inbreeding. The frequency of allele α(LELY) in the blood donor's sample (n = 54) was 24.1% whereas in the indigenous sample (n = 41), it was 15.9%. These frequencies were not significantly different at the 5% level (χ2 = 1.931). Similarly, when the frequencies of our samples were compared with those of the four ethnic groups studied by Marechal et al. [Br J Haematol 90:553-556, 1995], no significant differences were found at the 5% level (χ2 = 6.686). These results suggest that allele α(LELY) is a very ancient allele since it occurs with a relatively uniform and high frequency in all human ethnic groups studied so far. These findings confirm the importance of allele α(LELY) in influencing the expression of deleterious α-spectrin alleles. To our knowledge, these are the first data concerning allele α(LELY) in native Americans.|
|Appears in Collections:||Unicamp - Artigos e Outros Documentos|
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