Cytogenetics of genetic counseling patients in Pelotas, Rio Grande do Sul, Brazil
Authors: A.C. Duarte1, E. Cunha, J.M. Roth, F.L.S. Ferreira, G.L. Garcias and M.G. Martino-Roth
From 1986 to 2002, we examined the chromosomal composition of 916 patients attended by two genetic counseling services in the city of Pelotas, in the Brazilian State of Rio Grande do Sul, to determine the genetic causes of their disturbances. Patterns of G-banding using trypsin and Giemsa (GTG) and C-banding using barium and G.. Read More»
- Genet. Mol. Res. 3(3):
Comparative cytogenetic studies of Curimatidae (Pisces, Characiformes) from the middle Paran�¡ River (Argentina)
Authors: M.S. Brassesco, M.C. Pastori, H.A. Roncati and A.S. Fenocchio
Almost all species of the Curimatidae family have a stable karyotype, with a diploid number of 54 metacentric (M) and submetacentric (SM) chromosomes, and one sole nucleolus organizer pair. This family has considerable specific diversity in Argentinean fluvial basins; however, no cytogenetic data are available. Eight species f.. Read More»
- Genet. Mol. Res. 3(2):
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):
Genetic organization and expression of citrate permease in lactic acid bacteria
Authors: Djamel Drider, Sadjia Bekal and Herve Prevost
Citrate is present in many natural substrates, such as milk, vegetables and fruits, and its metabolism by lactic acid bacteria (LAB) plays an important role in food fermentation. The industrial importance of LAB stems mainly from their ability to convert carbohydrates into lactic acid and, in some species, like Lactococcus lac.. 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):
Genome of Chromobacterium violaceum - Special Session
Authors: Ana Tereza Ribeiro de Vasconcelos, Guest Editor and Project Coordinator
-.. Read More»
- Genet. Mol. Res. 3(1):