| Full text | |
| Author(s): |
Julio A. da Luz
[1]
;
Mónica Sans
[2]
;
Elza Miyuki Kimura
[3]
;
Dulcinéia Martins Albuquerque
[4]
;
Maria de Fatima Sonati
[5]
;
Fernando Ferreira Costa
[6]
Total Authors: 6
|
| Affiliation: | [1] Universidad de la República. Facultad de Medicina. Departamento de Genética - Uruguai
[2] Universidad de la República. Facultad de Humanidades y Ciencias de la Educación. Sección Antropología Biológica - Uruguai
[3] Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Patologia Clínica - Brasil
[4] Universidade Estadual de Campinas. Hemocentro - Brasil
[5] Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Patologia Clínica - Brasil
[6] Universidade Estadual de Campinas. Hemocentro - Brasil
Total Affiliations: 6
|
| Document type: | Journal article |
| Source: | GENETICS AND MOLECULAR BIOLOGY; v. 29, n. 4, p. 595-600, 2006-00-00. |
| Abstract | |
Hemoglobinopathies are the most common monogenic disorders worldwide; however, they have never been systematically studied from a genetic perspective in Uruguay. In this study, we determined the frequencies of hemoglobin variants in Afro-Uruguayans. A sample of 52 healthy unrelated Afro-Uruguayans from the northern (N = 28) and southern (N = 24) regions of the country was analyzed. Eight individuals (15.4%) were heterozygous for -alpha3,7thalassemia; seven of them (29.2%) were originally from the southern region, whereas one of them (3.6%) was from the northern region; the differences between both regions were statistically significant (p = 0.016 +/-0.003). The only structural mutation detected was betaS, which is typical of African populations. Four individuals (10%) were heterozygous for betaS, three of them (13.6%) from the South, and one (5.6%) from the North. The betaS haplotypes were analyzed in eight individuals: two were homozygous betaS/betaS, two were heterozygous betaS/betathal, and four were heterozygous betaS/betaª. This haplotype distribution (60% Bantu, 20% Benin, and 20% Bantu A2) is in agreement with historical records reporting a predominantly Bantu origin for the enslaved Africans brought to Uruguay. Even though this is a preliminary study, due to the small sample size, our results are suggestive of a relatively high incidence of hemoglobinopathies in the Afro-Uruguayan population. (AU) | |
| FAPESP's process: | 02/13801-7 - Hereditary hemoglobin disorders: molecular genetics, clinical features and animal models with the production of transgenic animals |
| Grantee: | Fernando Ferreira Costa |
| Support Opportunities: | Research Projects - Thematic Grants |