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Presence of allele α LELY in an Amazonian Indian population
Author(s) -
Bassères Daniela S.,
Salles Tereza S.I.,
Costa Fernando F.,
Saad Sara T.O.
Publication year - 1998
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/(sici)1096-8652(199803)57:3<212::aid-ajh5>3.0.co;2-y
Subject(s) - amazonian , allele , medicine , population , genetics , biology , environmental health , amazon rainforest , ecology , gene
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 São Paulo State, in the southeastern region of Brazil, and a sample of Parakanã 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 57% level (χ 2 = 1.931). Similarly, when the frequencies of our samples were compared with those of the four ethnic groups studied by Maréchal et al. [Br J Haematol 90:553–556, 1995], no significant differences were found at the 5% level (χ 2 = 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. Am. J. Hematol. 57:212–214, 1998. © 1998 Wiley‐Liss, Inc.