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| Menken, Steph B.J.. |
| Gel electrophoretic techniques were used to analyse patterns of variation at 12 genetic loci within and among species of the Ectoedemia subbimaculella group from western Europe. Geographically separated conspecific populations were similar to one another genetically, with the exception of E. subbimaculella where the malate dehydrogenase locus exhibited clinal variation. Genetic differences among species often concerned loci that were monomorphic or slightly polymorphic within populations. Three of the species could not be diagnosed by their allozyme content; allele distribution patterns at some loci suggest that speciation took place recently and did not involve a genetic bottleneck. Phylogenetic trees constructed from allozyme data paralleled closely the... |
| Tipo: Article / Letter to the editor |
Palavras-chave: Allozyme variation; Biochemical genetics; Taxonomy; Speciation; Insecta. |
| Ano: 1990 |
URL: http://www.repository.naturalis.nl/record/503975 |
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| Giugliani,Roberto; Federhen,Andressa; Michelin-Tirelli,Kristiane; Riegel,Mariluce; Burin,Maira. |
| Abstract Lysosomal storage diseases (LSDs) comprise a heterogeneous group of more than 50 genetic conditions of inborn errors of metabolism (IEM) caused by a defect in lysosomal function. Although there are screening tests for some of these conditions, diagnosis usually depends on specific enzyme assays, which are only available in a few laboratories around the world. A pioneer facility for the diagnosis of IEM and LSDs was established in the South of Brazil in 1982 and has served as a reference service since then. Over the past 34 years, samples from 72,797 patients were referred for investigation of IEM, and 3,211 were confirmed as having an LSD (4.41%, or 1 in 22), with 3,099 of these patients originating from Brazil. The rate of diagnosis has increased... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Lysosomal storage diseases; Epidemiology; Reference center; Biochemical genetics; Brazil. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000100031 |
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