| dc.creator | Basseres, DS | |
| dc.creator | Salles, TSI | |
| dc.creator | Costa, FF | |
| dc.creator | Saad, STO | |
| dc.date | 1998 | |
| dc.date | MAR | |
| dc.date | 2014-12-02T16:24:40Z | |
| dc.date | 2015-11-26T17:18:33Z | |
| dc.date | 2014-12-02T16:24:40Z | |
| dc.date | 2015-11-26T17:18:33Z | |
| dc.date.accessioned | 2018-03-29T00:06:15Z | |
| dc.date.available | 2018-03-29T00:06:15Z | |
| dc.identifier | American Journal Of Hematology. Wiley-liss, v. 57, n. 3, n. 212, n. 214, 1998. | |
| dc.identifier | 0361-8609 | |
| dc.identifier | WOS:000072258000005 | |
| dc.identifier | 10.1002/(SICI)1096-8652(199803)57:3<212 | |
| dc.identifier | http://www.repositorio.unicamp.br/jspui/handle/REPOSIP/70157 | |
| dc.identifier | http://www.repositorio.unicamp.br/handle/REPOSIP/70157 | |
| dc.identifier | http://repositorio.unicamp.br/jspui/handle/REPOSIP/70157 | |
| dc.identifier.uri | http://repositorioslatinoamericanos.uchile.cl/handle/2250/1282688 | |
| dc.description | Allele alpha(LELY) is a low-expression allele of the erythroid spectrin alpha-chain that is characterized by a C --> G mutation at position alpha 1857 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 alpha-chains by the beta-chains during erythropoeisis. Although allele alpha(LELY) remains asymptomatic in both heterozygotes and homozygotes, it enhances the expression of deleterious alpha-alleles that occur and, as such, has clinical importance, In this study, the frequency of allele alpha(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 alpha(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 (chi(2) = 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 (chi(2) = 6.686). These results suggest that allele alpha(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 alpha(LELY) in influencing the expression of deleterious alpha-spectrin alleles. To our knowledge, these are the first data concerning allele alpha(LELY) in native Americans. (C) 1998 Wiley Liss, Inc. | |
| dc.description | 57 | |
| dc.description | 3 | |
| dc.description | 212 | |
| dc.description | 214 | |
| dc.language | en | |
| dc.publisher | Wiley-liss | |
| dc.publisher | New York | |
| dc.publisher | EUA | |
| dc.relation | American Journal Of Hematology | |
| dc.relation | Am. J. Hematol. | |
| dc.rights | fechado | |
| dc.rights | http://olabout.wiley.com/WileyCDA/Section/id-406071.html | |
| dc.source | Web of Science | |
| dc.subject | alpha-spectrin | |
| dc.subject | allele alpha(LELY) | |
| dc.subject | South America | |
| dc.subject | Amazonian Indians | |
| dc.subject | Brazilian population | |
| dc.subject | Low-expression Allele | |
| dc.subject | Red-cell Spectrin | |
| dc.subject | Hereditary Elliptocytosis | |
| dc.subject | Dna | |
| dc.title | Presence of allele alpha(LELY) in an Amazonian Indian population | |
| dc.type | Artículos de revistas | |
