Search results for " polymorphism"
showing 10 items of 1028 documents
Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population
1996
Haplotype analysis is a powerful approach to understand the spectrum of mutations accounting for a disease in a homogeneous population. We show that haplotype variation for 10 markers linked to the Friedreich ataxia locus (FRDA) argues in favor of an important mutation homogeneity in the Spanish population, and positions the FRDA locus in the region where it has been recently isolated. We also report the finding of a new single nucleotide polymorphism called FAD1. The new marker shows a very strong linkage disequilibrium with Friedreich ataxia (FA) in both the Spanish and French populations. suggesting the existence of an ancient and widespread FRDA mutations. Inclusion of FAD1 in the exten…
Sex-dependent genetic markers of CYP3A4 expression and activity in human liver microsomes
2007
Objective: To find genetic markers of the individual cytochrome P450 (CYP)3A expression. Methods: A large collection of liver samples phenotyped for CYP3A expression and activity was genotyped for CYP3A variants. Data were analyzed for associations between CYP3A phenotypes and genotypes, and for evidence of recent selection. Results: We report associations between the hepatic CYP3A4 protein expression level, as well as its enzymatic activity, measured as verapamil N-dealkylation, and genetic polymorphisms from two regions within the CYP3A gene cluster. One region is defined by several variants, mostly located within CYP3A7, the other by a single nucleotide polymorphism in intron 7 of CYP3A…
Isolation By Distance (IBD) signals in the deep-water rose shrimp Parapenaeus longirostris (Lucas, 1846) (Decapoda, Panaeidae) in the Mediterranean S…
2013
Abstract The identification of boundaries of genetic demes is one of the major goals for fishery management, and few Mediterranean commercial species have not been studied from a genetic point of view yet. The deep-water rose shrimp Parapenaeus longirostris (Lucas, 1846) is one of the most important components of commercial landings in Mediterranean, its fishery aspects have received much attention, regrettably without any concern for the genetic architecture of its populations. The population structure in the central and eastern Mediterranean Sea (captures from six Italian and two Greek landings) has been analysed on the basis of surveys carried out with mitochondrial and AFLP markers. Dat…
pcaH, a molecular marker for estimating the diversity of the protocatechuate-degrading bacterial community in the soil environment
2007
Microorganisms degrading phenolic compounds play an important role in soil carbon cycling as well as in pesticide degradation. The pcaH gene encoding a key ring-cleaving enzyme of the -ketoadipate pathway was selected as a functional marker. Using a degenerate primer pair, pcaH fragments were cloned from two agricultural soils. Restriction fragment length polymorphism (RFLP) screening of 150 pcaH clones yielded 68 RFLP families. Comparison of 86 deduced amino acid sequences displayed 70% identity to known PcaH sequences. Phylogenetic analysis results in two major groups mainly related to PcaH sequences from Actinobacteria and Proteobacteria phyla. This confirms that the developed primer pai…
Late Quaternary distributional stasis in the submediterranean mountain plant Anthyllis montana L. (Fabaceae) inferred from ITS sequences and amplifie…
2002
Anthyllis montana is a submediterranean, herbaceous plant of the southern and central European mountains. The internal transcribed spacer (ITS) regions of nuclear ribosomal DNA were sequenced from multiple accessions of the species and several closely related taxa. In addition, amplified fragment length polymorphism (AFLP) was analysed from 71 individuals of A. montana collected in 20 localities, mainly in the Pyrenees, Alps, Italian Peninsula and Balkans. Our ITS phylogeny showed a sequential branching pattern in A. montana, implying a western Mediterranean origin followed by an eastward migration. ITS clock calibrations suggest that speciation of A. montana took place at the Pliocene-Plei…
Plant speciation in continental island floras as exemplified byNigellain the Aegean Archipelago
2008
Continental shelf island systems, created by rising sea levels, provide a premier setting for studying the effects of geographical isolation on non-adaptive radiation and allopatric speciation brought about by genetic drift. The Aegean Archipelago forms a highly fragmented complex of mostly continental shelf islands that have become disconnected from each other and the mainland in relatively recent geological times (ca<5.2 Ma). These ecologically fairly homogenous islands thus provide a suitable biogeographic context for assessing the relative influences of past range fragmentation, colonization, gene flow and drift on taxon diversification. Indeed, recent molecular biogeographic studies…
Evaluation of antioxidant properties and assessment of genetic diversity of Capparis spinosa cultivated in Pantelleria Island.
2017
Capparis spinosa is a wild and cultivated bush, which grows mainly in the Mediterranean Basin. Unopened flower buds, called capers are used in the Mediterranean cuisine as flavoring for meat, vegetable and other foods. Several studies evaluated bioactive component and antioxidant activity of Capparis spinosa, increasing the market demand and the economic importance of capers.The aim of this work was to evaluate the contents of bioactive compounds in floral buds fermented in salt of C. spinosa collected from different areas of Pantelleria Island (Italy), testing the effect on healthy function as total antioxidant compounds. Hydrophilic extracts of C. spinosa from Pantelleria Island were char…
The origin of the serpentine endemic Minuartia laricifolia subsp. ophiolitica by vicariance and competitive exclusion.
2013
Serpentine soils harbour a unique flora that is rich in endemics. We examined the evolution of serpentine endemism in Minuartia laricifolia, which has two ecologically distinct subspecies with disjunct distributions: subsp. laricifolia on siliceous rocks in the western Alps and eastern Pyrenees and subsp. ophiolitica on serpentine in the northern Apennines. We analysed AFLPs and chloroplast sequences from 30 populations to examine their relationships and how their current distributions and ecologies were influenced by Quaternary climatic changes. Minuartia laricifolia was divided into four groups with a BAPS cluster analysis of the AFLP data, one group consisted only of subsp. ophiolitica, …
Comparative phylogeography of the Veronica alpina complex in Europe and North America
2006
The Veronica alpina complex comprises eight species of alpine habitats over a wide range of mountain systems in the Northern Hemisphere. The occurrence of sympatric species in the European and North American mountain systems allowed us not only to investigate the effect of the ice ages on intraspecific phylogeographical patterns and genetic diversity in different continents of the Northern Hemisphere, but also to compare these patterns in closely related species. Plastid DNA trnL-F sequences and AFLP (amplified fragment length polymorphism) fingerprints were used to infer the phylogenetic history of the group and phylogeographical patterns within species. Hybrid origin of tetraploid eastern…
Molecular characterization of fasciola spp. From some parts of Iran
2020
Background: Identification of liver flukes, Fasciola hepatica, and Fasciola gigantica by morphometric parameters is not always reliable due to the overlapping measurements. This study aimed to characterize the liver flukes of animals from different parts of Iran by the genetic markers, ITS1, and COXI. Methods: We collected flukes from infected livestock in six provinces of Iran from Sep to Nov 2016. The flukes were identified by amplification of a 680 bp sequence of ITS1 locus followed by a restriction fragment polymorphism (RFLP) assay. The genetic diversity among isolates was evaluated by amplification and sequencing of a 493 bp fragment of the COXI gene. Results: We obtained 38 specimens…