RESUMO
We studied five unrelated Mexican carriers of the Spanish (δß)(0)-thalassemia [(δß)(0)-thal] mutation to characterize the size of the deletion, the 5' and 3' breakpoints and the 5' ß-globin haplotype. Sequence analysis revealed the presence of an 89,548 bp deletion. The δ- and ß-globin genes, two olfactory receptor genes (OR51V1 and OR52A1) and two pseudogenes (OR52Z1P and OR51A1P) were deleted. The 5' breakpoint was located at the same position as previously reported, and the 3' breakpoint was situated 7.0 kb downstream of OR52A1 and 11.7 kb upstream of OR52A5. The Spanish (δß)(0)-thal allele was associated with the 5' haplotype 2 [- + + - +] in the studied patients. Because this mutation is relatively frequent in Spain, and the Mexican population contains a high level of Spanish genetic background, we propose that the mutation in both populations share a common ancestral origin.
Assuntos
Americanos Mexicanos/genética , Deleção de Sequência , Talassemia/genética , Globinas beta/genética , Globinas delta/genética , Alelos , Sequência de Bases , Pontos de Quebra do Cromossomo , Haplótipos , Heterozigoto , Humanos , México/epidemiologia , Dados de Sequência Molecular , Mutação , Reação em Cadeia da Polimerase , Pseudogenes , Receptores Odorantes/deficiência , Receptores Odorantes/genética , Análise de Sequência de DNA , Espanha/etnologia , Talassemia/etnologia , Globinas beta/deficiência , Globinas delta/deficiênciaRESUMO
Between 1978 and 2009, we studied 1,863 Mexican Mestizo patients with clinical data compatible with a hemoglobinopathy. Of these patients, 382 had some hemoglobin (Hb) abnormality (20.5%), 128 had a sickle cell hemoglobinopathy, representing a general frequency of 6.9%, which is similar to the percentage observed in previous studies on Mexican Mestizos. We analyzed the 5' ß-globin haplotype (5'Hp) in 79 unrelated ß(S) chromosomes (26 ß(S)/ß(S), 14 ß(S)/ß(Thal), nine ß(S)/ß(A) and four ß(S)/ß(D)), and four haplotypes were observed: 72.2% CAR 24.1% Benin, 2.5% Senegal and 1.2% Cameroon; the last two are reported for first time in Mexico. In some Latin American populations such as Brazil, the Bantu haplotype predominates, while in others such as Jamaica, the Benin haplotype is the most frequent, showing heterogeneity of African genes as a consequence of different regions involved in the slave trade.
Assuntos
Etnicidade/genética , Hemoglobina Falciforme/genética , Mutação de Sentido Incorreto , Saúde da Família , Frequência do Gene , Heterogeneidade Genética , Genótipo , Geografia , Haplótipos , Hemoglobinopatias/genética , Humanos , México , Globinas beta/genéticaRESUMO
The expansion of the habitat of mosquitoes belonging to the Aedes genus puts nearly half of the world's population at risk of contracting dengue fever, and a significant fraction will develop its serious hemorrhagic complication, which can be fatal if not diagnosed properly and treated in a timely fashion. Although several diagnostic methods have been approved for dengue diagnostics, their applicability is limited in rural areas of developing countries by sample preparation costs and methodological requirements, as well as cross-reactivity among the different serotypes of the Dengue virus and other flavivirus, such as the Zika virus. For these reasons, it is necessary to generate more specific antigens to improve serological methods that could be cheaper and used in field operations. Here, we describe a strategy for the inactivation of cross-reacting epitopes on the surface of the Dengue virus envelope protein through the synthetic generation of recombinant peptide sequences, where key amino acid residues from Dengue virus serotype 1 (DENV-1) and 2 (DENV-2) are substituted by alanine residues. The proteins thus generated are recognized by 88% of sera from Dengue NS1+ patients and show improved serotype specificity because they do not react with the antibodies present in seroconverted, PCR-serotyped DEN-4 infected patients.