Search results for "microsatellite"
showing 10 items of 425 documents
Conservation of genetic diversity in artificially regenerated holm oak (Quercus ilex L.) populations
2004
Reforestation with autochtonous species should take into account the preservation of the variability and the geographical structure of genetic diversity in forest species. In order to provide empirical data, genetic composition of an artificial population of holm oak (Quercus ilex L.) and its natural seed-origin population in Andalusia were analysed with six microsatellite loci. The genetic diversity indices applied show a reduction in the artificial stand if compared with the natural one, probably due to an inappropriate forester seed collection strategy limited to a few trees.
Identification of a novel candidate locus for juvenile idiopathic arthritis at 14q13.2 in the Latvian population by association analysis with microsa…
2010
To identify novel juvenile idiopathic arthritis (JIA) susceptibility loci, a 270 kb genomic region encompassing FAM177A1, KIAA0391, and PSMA6 genes was genotyped in 97 oligoarthritis (JIoA) and 50 polyarthritis (JIpA) patients and 230 individuals without autoimmune disorders by five microsatellites (MS) previously described as HSMS markers of the 14q13.2 region. Direct sequencing revealed two variable components of the (CAA)(n)(A)(m) motif in HSMS602 marker (FAM177A1 gene). Repeat (AC)(5)AT(AC)(n) of the HSMS701 (KIAA0391 gene) was variable in the Latvian population only in its downstream part. Allele (AC)(5)AT(AC)(15) of HSMS701 was found to be strongly associated with JIA (p = 4.91 x 10(-…
Is the ballan wrasse (Labrus bergylta) two species? Genetic analysis reveals within-species divergence associated with plain and spotted morphotype f…
2016
Abstract The ballan wrasse (Labrus bergylta) is a marine fish belonging to the family Labridae characterized by 2 main morphotypes that occur in sympatry: spotty and plain. Previous studies have revealed differences in their life‐history traits, such as growth and maturation; however, the genetic relationship between forms is presently unknown. Using 20 recently developed microsatellite markers, we conducted a genetic analysis of 41 and 48 spotty and plain ballan wrasse collected in Galicia (northwest Spain). The 2 morphotypes displayed highly significant genetic differences to each other (F ST = 0.018, P < 0.0001). A similar degree of genetic differentiation (F ST = 0.025, P < 0.0001) was …
Identification and characterization of five polymorphic microsatellite loci in the freshwater copepod Hemidiaptomus gurneyi (Copepoda: Calanoida: Dia…
2016
Hemidiaptomus diaptomid copepods are known to be excellent biological indicators for the highly biodiverse crustacean communities inhabiting Mediterranean temporary ponds (MTPs), an endangered inland water habitat whose conservation is considered a priority according to the “Habitat Directive” of the European Union. This study reports on the characterization of five polymorphic microsatellite loci in Hemidiaptomus gurneyi, to be used as markers for fine-scale studies on the population genetic structure and metapopulation dynamics of a typical and obligate MTP dweller. The five selected loci proved to be polymorphic in the species, with three to five polymorphic loci per studied population. …
Two distinct genomic regions, harbouring the period and fruitless genes, affect male courtship song in Drosophila montana
2012
Acoustic signals often have a significant role in pair formation and in species recognition. Determining the genetic basis of signal divergence will help to understand signal evolution by sexual selection and its role in the speciation process. An earlier study investigated quantitative trait locus for male courtship song carrier frequency (FRE) in Drosophila montana using microsatellite markers. We refined this study by adding to the linkage map markers for 10 candidate genes known to affect song production in Drosophila melanogaster. We also extended the analyses to additional song characters (pulse train length (PTL), pulse number (PN), interpulse interval, pulse length (PL) and cycle nu…
Thymidylate synthase polymorphism and microsatellite instability: association in colorectal cancer.
2005
5-Fluorouracil (5FU) is the main drug used for the treatment of colorectal cancer (CRC) and Thymidilate Synthase (TS) is its target enzyme. TS gene has regulatory tandemly repeated sequences in its 5'' and 3''untraslated region (5''-3'' UTR). CRC often shows a kind of genomic instability called Microsatellite Instability (MSI) that is associated with TS levels and survival. Our data show that the genotype 2R/2R (homozygosity for 2 tandem repeat sequences in the 5''UTR) is more frequently associated with MSI+ and lower TS levels. More over we did not find any significant association between the 2R/3R (heterozygosity for 2 and 3 tandem repeat sequences in the 5''UTR) and 3R/3R (homozygosity f…
Is BRCA1-5083del19, identified in breast cancer patients of Sicilian origin, a Calabrian founder mutation?
2007
Various studies have been published in Italy regarding the different BRCA1 mutations, but only the BRCA1-5083del19 mutation is recurrent and specific to individuals of Italian descent with a founder effect on the Calabrian population. In our previous study, BRCA1-5083del19 mutation carriers were found in four index cases of 106 Sicilian patients selected for familial and/or hereditary breast/ovarian cancers. The high frequency rate of this mutation identified in the Sicilian population led us to perform haplotype analysis in all family carriers. Five highly polymorphic microsatellite markers were used (D17S1320, D17S932, D17S1323, D17S1326, D17S1325) to establish whether or not all these fa…
Somatic mutation profiles as molecular classifiers of ulcerative colitis-associated colorectal cancer.
2021
Ulcerative colitis increases colorectal cancer risk by mechanisms that remain incompletely understood. We approached this question by determining the genetic and epigenetic profiles of colitis-associated colorectal carcinomas (CA-CRC). The findings were compared to Lynch syndrome (LS), a different form of cancer predisposition that shares the importance of immunological factors in tumorigenesis. CA-CRCs (n=27) were investigated for microsatellite instability, CpG island methylator phenotype, and somatic mutations of 999 cancer-relevant genes ("Pan-cancer" panel). A subpanel of "Pan-cancer" design (578 genes) was used for LS colorectal tumors (n=28). Mutational loads and signatures stratifie…
Identification of (In)Compatible S-genotypes and Molecular Characterisation of Italian Sweet Cherry Cultivars.
2017
Italy is the first sweet cherry producer in Europe. Its rich germplasm of local varieties has not been fully characterised or exploited in breeding programmes. Sweet cherry is a self-incompatible species; this trait is controlled by a gametophytically expressed multi-allelic (S) locus. The knowledge of sweet cherry S-alleles and cross-incompatibility groups is important for growers and breeders for choosing appropriate pollinators in the orchard and planning crosses. In this work, we analysed 94 sweet cherry cultivars native of large part of the Italian regions where cherry is grown. The microsatellite primer pair set and the reference cultivars agreed for cherry by the Prunus Working Group…
Genetic structure of a patchily distributed philopatric migrant: implications for management and conservation
2017
Significant demographic fluctuations can have major genetic consequences in wild populations. The lesser kestrel (Falco naumanni) has suffered both population declines and range fragmentation during the second half of the 20th century. In this study we analysed multilocus microsatellite data to assess the genetic structure of the species. Our analysis revealed significant genetic structuring of lesser kestrel populations, not only at the cross-continental scale, but also regionally within the Central and Eastern (CE) Mediterranean region. We detected signs of genetic bottlenecks in some of the peripheral populations coupled with small effective population sizes. Values of genetic differenti…