Human Genetics
Patau syndrome with a long survival. A case report
Authors: A.C. Duarte, A.I.C. Menezes, E.S. Devens, J.M. Roth, G.L. Garcias and M.G. Martino-Roth
Trisomy 13 is a clinically severe entity; 85% of the patients do not survive beyond one year, and most children die before completing six months of age. We report a female child, 28 months old, white, the fourth child of a non-consanguineous couple, who presented trisomy 13. The child was born at term, from a vaginal delivery,.. Read More»
- Genet. Mol. Res. 3(2):
Knockdown of chimeric glucoce rebrosidase by green fluorescent protein-directed small interfering RNA
Authors: Tessa N. Campbell, Francis Y.M. Choy
Gaucher disease, the most common type of lysosomal storage disorder, is characterized by an inherited deficiency of the membrane-associated hydrolase, glucocerebrosidase. Glucocerebrosidase catalyzes the hydrolysis of glucocerebroside to ceramide and glucose, a crucial step in the recycling of membrane sphingolipids. The exorb.. Read More»
- Genet. Mol. Res. 3(2):
Standardization of conditions for the metabolic activation of N-nitrosodiethylamine in mutagenicity tests
Authors: Claudia Alessandra Fortes Aiub, Luis Felipe Ribeiro Pinto and Israel Felzenszwalb
Like all nitrosamines, N-nitrosodiethylamine (NDEA) requires metabolic activation in order to exert its carcinogenic effects. This activation involves cytochrome P450s (CYP), which generates unstable metabolites that react with the DNA of cells in the immediate vicinity of metabolite formation. Although NDEA is carcinogenic, i.. Read More»
- Genet. Mol. Res. 3(2):
A low prevalence of cystic fibrosis in Uruguayans of mainly European descent
Authors: Horacio Cardoso, Beatriz Crispino, Adriana Mimbacas and Manuel Enrique Cardoso
Cystic fibrosis is the most common hereditary disease in populations of European descent, with its prevalence depending on the populations and ethnic groups studied. In contrast to Europe and North America, there is little information about this disease in Latin America. Uruguay currently has a human population of 3,000,000, w.. Read More»
- Genet. Mol. Res. 3(2):
Diagnosis of human visceral leishmaniasis by PCR using blood samples spotted on filter paper
Authors: Eduardo Sergio da Silva, C�©lia Maria Ferreira Gontijo,Raquel da Silva Pacheco and Reginaldo Pe�§anha Brazil
The polymerase chain reaction (PCR) is a simple, rapid procedure that has been adapted for the diagnosis of leishmaniasis. In the present study, 85 blood samples and seven bone marrow aspirates from 85 patients with clinical symptoms suggestive of visceral leishmaniasis from the metropolitan region of Belo Horizonte in the Bra.. Read More»
- Genet. Mol. Res. 3(2):
Evolution by polyploidy and gene regulation in Anura
Authors: Maria Luiza Be�§ak, Leonardo Setsuo Kobash
The evolution of the metazoa has been characterized by gene redundancy, generated by polyploidy, tandem duplication and retrotransposition. Polyploidy can be detected by looking for duplicated chromosomes or segments of orthologous chromosomes in post-polyploid animals. It has been proposed that the evolutionary role of polypl.. Read More»
- Genet. Mol. Res. 3(2):
Closure of rRNA related gaps in the Chromobacterium violaceum genome with the PCR-assisted contig extension (PACE) protocol
Authors: Dirce Maria Carraro, Anamaria Aranha Camargo, Anna Christina Matos Salim, Luiz Gonzaga Gisele Cavalcante da Costa, Ana Tereza Ribeiro de Vasconcelos, Andrew J.G. Simpson
In the finishing phase of the Chromobacterium violaceum genome project, the shotgun sequences were assembled into 57 contigs that were then organized into 19 scaffolds, using the information from shotgun and cosmid clones. Among the 38 ends resulting from the 19 scaffolds, 10 ended with sequences corresponding to rRNA genes (s.. Read More»
- Genet. Mol. Res. 3(1):
Coordinated, network-based research as a strategic component of science in Brazil
Authors: Andrew J.G. Simpson, Anamaria A. Camargo, Jesus Aparecido Ferro. Jucara Parra, Ana Tereza Vasconcelos
Scientific research plays a fundamental role in the health and development of any society, since all technological advances depend ultimately on scientific discovery and the generation of wealth is intricately dependent on technological advance. Due to their importance, science and technology generally occupy important places .. Read More»
- Genet. Mol. Res. 3(1):
Occupational genotoxicity risk evaluation through the comet assay and the micronucleus test
Authors: M.G. Martino-Roth, J. Vi�©gas, D.M. Roth
The micronucleus (MN) test and the alkaline single cell gel or comet assay were applied to exfoliated cells of the buccal mucous in order to evaluate the genotoxic risk associated with occupational exposure of 10 storage battery renovation workers, and 10 car painters, with age matched controls, in Pelotas, RS, in southern Brazil. In the MN test, 2000 exf.. Read More»
- Genet. Mol. Res. 2(4):
Preferred amino acids and thermostability
Authors: S�¡vio T. Farias, Maria Christina M. Bonato
Most organisms grow at temperatures from 20 to 50°C, but some prokaryotes, including Archaea and Bacteria, are capable of withstanding higher temperatures, from 60 to >100°C. Their biomolecules, especially proteins, must be sufficiently stable to function under these extreme conditions; however, the basis for thermo.. Read More»
- Genet. Mol. Res. 2(4):