Search results for "microsatellite"
showing 10 items of 425 documents
Localization of MRX82: A new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family
2004
Clinical and molecular studies are reported on a Basque family (MRX82) with nonsyndromic X-linked mental retardation (XLMR) in five affected males. A total of 38 microsatellite markers were typed. The XLMR locus has been linked to DXS8067, DXS1001, DXS425, DXS7877, and DXS1183 with a maximum LOD score of 2.4. The haplotype studies and multipoint linkage analysis suggest a localization of the MRX82 locus to an interval of 7.6 Mb defined by markers DXS6805 and DXS7346, in Xq24 and Xq25, respectively. No gene contained in this interval has been so far associated with nonsyndromic mental retardation, except for GRIA3, disrupted by a balanced translocation in a female patient with bipolar affect…
Development and localization of microsatellite markers for the sibling species Chironomus riparius and Chironomus piger (Diptera: Chironomidae)
2006
Five variable microsatellite loci are reported for the nonbiting midge species Chironomus riparius and Chironomus piger. All loci show considerable intraspecific variation and species-specific alleles, which allow to discriminate among the two closely related species and their interspecific hybrids, and to estimate genetic diversity within and between populations. Additionally, the loci were localized on C. riparius polytene chromosomes to verify their single copy status and investigate possible chromosomal linkage. The described markers are used in different studies with regard to population and ecological genetics and evolutionary ecotoxicology of Chironomus.
Genetic structure in the Mediterranean seagrass Posidonia oceanica: disentangling past vicariance events from contemporary patterns of gene flow
2010
The Mediterranean Sea is a two-basin system, with the boundary zone restricted to the Strait of Sicily and the narrow Strait of Messina. Two main population groups are recognized in the Mediterranean endemic seagrass Posidonia oceanica, corresponding to the Western and the Eastern basins. To address the nature of the East-West cleavage in P. oceanica, the main aims of this study were: (i) to define the genetic structure within the potential contact zone (i.e. the Strait of Sicily) and clarify the extent of gene flow between the two population groups, and (ii) to investigate the role of present water circulation patterns vs. past evolutionary events on the observed genetic pattern. To achiev…
Isolation of seven polymorphic microsatellites in Ophioblennius atlanticus atlanticus (Perciformes, Blenniidae)
2005
We isolated and characterized seven polymorphic microsatellite loci of Ophioblennius atlanticus atlanticus (Valenciennes, 1836) using an optimized protocol to construct and screen a microsatellite-enriched genomic library. The analysis of variability was performed in 16 specimens from Faial Island (Azores, Portugal). The mean number of alleles was 8.71 ± ± ± 2.43 and the level of expected heterozygosity ranged from 0.764 to 0.903. The total exclusionary probabilities using these loci for the first and the second parent were 0.985 and 0.998, respectively, suggesting that these microsatellites are a useful tool for large-scale parentage analysis.
First data on the genetic structure of Trachemys scripta populations in Sicily (Testudines: Emydidae)
2022
The pond slider Trachemys scripta is one of the most widespread alien turtle species in the world. Its unregulated trade and the consequent uncontrolled releases into the wild led to negative impacts on the native turtles of the invaded areas. In Italy, alien pond sliders are widely spread, and the occurrence of hatchlings and well-established populations is known in some areas. However, to date in Sicily, only a single female of Trachemys scripta laying eggs was reported. Besides that, nothing is known about the actual reproduction success and establishment of self-sustaining T. scripta populations in Sicily. Therefore, based on 14 previously characterised highly polymorphic microsatellite…
Assessing the influence of the amount of reachable habitat on genetic structure using landscape and genetic graphs.
2021
Genetic structure, i.e. intra-population genetic diversity and inter-population genetic differentiation, is influenced by the amount and spatial configuration of habitat. Measuring the amount of reachable habitat (ARH) makes it possible to describe habitat patterns by considering intra-patch and inter-patch connectivity, dispersal capacities and matrix resistance. Complementary ARH metrics computed under various resistance scenarios are expected to reflect both drift and gene flow influence on genetic structure. Using an empirical genetic dataset concerning the large marsh grasshopper (Stethophyma grossum), we tested whether ARH metrics are good predictors of genetic structure. We further i…
Gene flow in the European coal tit, Periparus ater (Aves: Passeriformes): Low among Mediterranean populations but high in a continental contact zone
2018
Abstract Extant phylogeographical patterns of Palearctic terrestrial vertebrates are generally believed to have originated from glacial range fragmentation. Post-Pleistocene range expansions have led to the formation of secondary contact zones among genetically distinct taxa. For coal tits (Periparus ater), such a contact zone has been localized in Germany. In this study, we quantified gene flow between Fennoscandian and southern European coal tits using a set of 13 microsatellite loci. STRUCTURE analysis revealed four genetic clusters, two occurring on Mediterranean islands. German populations were genetically admixed but introgression of southern alleles was evident for Fennoscandian popu…
Genetic database development for the characterisation of Sicilian sheep population
2019
The most representative sheep in Sicily are Belicina, Comisana, Pinzirita, Barbarescaand the crossbred derived sheep from all this species. In this study, the allelic frequencies of the Sicilian sheep population were investigated. It currently represents the best way to determine the genetic identity and/or family even with limited amounts of sample or when the DNA is degraded. The aim of the study was to provide a reference data bank and to evaluate a microsatellite panel for pedigree analysis as suggested by the International Society for Animal Genetics (ISAG). There are various studies on European sheep, but few datasets were developed on the population of Sicilian sheep. The reference d…
Testing for Lynch Syndrome in Endometrial Carcinoma: From Universal to Age-Selective MLH1 Methylation Analysis
2022
Simple Summary International guidelines recommend universal screening of endometrial carcinoma patients for Lynch syndrome, a hereditary cancer predisposition syndrome. Screening is based on mismatch repair protein immunohistochemistry and reflex MLH1 methylation analysis to exclude the likely sporadic cases of MMR deficiency. As sporadic MLH1 protein loss is common in endometrial carcinoma, the ability to target methylation testing would save efforts and costs. We discovered that limiting methylation testing to patients under 65 years would have significantly reduced the testing effort while maintaining a low false negative rate for MLH1-LS detection (0% and 3% in our clinic and registry-b…
Isolation and characterization of 8 microsatellite loci for the "killer shrimp'', an invasive Ponto-Caspian amphipod Dikerogammarus villosus (Crustac…
2015
5 pages; International audience; Dikerogammarus villosus is a freshwater amphipod of the Ponto-Caspian origin recognized as one of the 100 worst alien species in Europe, having negative impact on biodiversity and functioning of the invaded aquatic ecosystems. The species has a wide ecophysiological tolerance and during the last 20 years it has rapidly spread throughout European inland waters. In consequence, it presents a major conservation management problem. We describe eight polymorphic microsatellite loci developed for D. villosus by combining a biotin-enrichment protocol and new generation 454GS-FLX Titanium pyrosequencing technology. When genotyped in 64 individuals from two locations…