Search results for "genetic analysis"
showing 10 items of 145 documents
Genetic Diversity of HIV-1 Non-B Strains in Sicily: Evidence of Intersubtype Recombinants by Sequence Analysis ofgag,pol, andenvGenes
2007
The molecular epidemiology of HIV-1 strains in Sicily (Italy) was phylogenetically investigated by the analysis of HIV-1 gag, pol, and env gene sequences from 11 HIV-1 non-B strains from 408 HIV-1-seropositive patients observed from September 2001 to August 2006. Sequences suggestive of recombination were further investigated by bootscanning analysis of various fragments. Overall, we identified several second-generation recombinant (SGRs) strains, which contained genetic material of CRF02_AG in at least one gene. Notably, three individuals were found to be infected with subsubtype A3, and one of them showed genetic recombination with subsubtype A4. The current study emphasizes the genetic a…
Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus
2018
Background Oral white sponge nevus (WSN) is a rare autosomal dominant benign condition, characterized by asymptomatic spongy white plaques. Mutations in Keratin 4 (KRT4) and 13 (KRT13) have been shown to cause WSN. Familial cases are uncommon due to irregular penetrance. Thus, the aim of the study was: a) to demonstrate the clinical and histopathological features of a three-generation Turkish family with oral WSN b) to determine whether KRT4 or KRT13 gene mutation was the molecular basis of WSN. Material and Methods Out of twenty members of the family ten were available for assessment. Venous blood samples from six affected and five unaffected members and 48 healthy controls were obtained f…
A Novel Loss-of-Function Mutation (N48K) in the PTEN Gene in a Spanish Patient with Cowden Disease
2003
Cowden disease, also known as multiple hamartoma syndrome, is a rare disease inherited in an autosomal dominant pattern, which confers a high risk of developing breast and thyroid carcinomas. Mutations in PTEN, a tumor suppressor gene located on chromosome 10q23, have been identified in patients with Cowden disease. In this work, the direct sequencing of all coding regions of the PTEN gene led us to the identification of N48K, a new germline PTEN missense mutation, in a patient suffering from Cowden disease. The genetic analysis of 200 chromosomes from healthy individuals revealed that the variant was not common in our population. Moreover, by functional analysis we found that the ability o…
Improved accuracy of hysteroembryoscopic biopsies for karyotyping early missed abortions
2003
Abstract Objective To assess the potential of direct embryo and chorion biopsies obtained by hysteroembryoscopy for karyotyping early missed abortions. Design Clinical prospective descriptive study. Setting Instituto Valenciano de Infertilidad, Valencia, Spain. Patient(s) Sixty-eight women (71 gestational sacs) with missed abortions. The gestational age on ultrasound was 6.3 weeks (range, 4–10 weeks). Intervention(s) Transcervical hysteroembryoscopy before curettage. Main outcome measure(s) Comparison between the cytogenetic results from hysteroembryoscopic biospies and those of the curettage material. Result(s) Hysteroembryoscopic biopsies could be taken in 97.2% of the gestational sacs. D…
Contribution of genetic and environmental factors to individual differences in maximal walking speed with and without second task in older women
2005
Background. Among older people, distraction while walking may increase the risk of falls. Factors underlying individual differences in dual tasking are not fully understood. Our aim was to study the effect of a second task on maximal walking speed and to examine whether individual differences in walking speed measured with and without a second task are accounted for by genetic and environmental influences shared across tasks or specific to each task. Methods. The data were collected from the 101 monozygotic and 116 dizygotic twin pairs aged 63–76 years recruited from the Finnish Twin Cohort. Maximal walking speed (MWS) over 10 m was measured on a laboratory corridor and timed with photocell…
Induction of pollen embryogenesis in seven cultivars of Prunus armeniaca l.
2010
6 páginas -- PAGS nros. 273-278
Early induction of genetic instability and apoptosis by arsenic in cultured Chinese hamster cells
2002
In order to assess at what time from the beginning of exposure inorganic arsenic can give rise to genetic instability and trigger apoptosis, V79-C13 Chinese hamster cells were treated with 10 microM sodium arsenite for 24 h. Under these conditions, cell survival was >70% and cells showed neither an increase in chromosome aberration frequency nor a delay in cell cycle progression. Investigations, which were carried out every 6 h during the treatment, revealed an early appearance of genetically unstable cells, namely micronucleated, multinucleated and mononucleated 'giant' cells, as well as apoptotic cells. Indirect immunostaining using anti-beta-tubulin antibody showed severe alterations in …
A new styracosternan hadrosauroid (Dinosauria: Ornithischia) from the Early Cretaceous of Portell, Spain
2021
A new styracosternan ornithopod genus and species is described based on the right dentary of a single specimen from the Mirambell Formation (Early Cretaceous, early Barremian) at the locality of Portell, (Castellón, Spain).Portellsaurus sosbaynatigen. et sp. nov. is diagnosed by two autapomorphic features as well as a unique combination of characters. The autapomorphies include: the absence of a bulge along the ventral margin directly ventral to the base of the coronoid process and the presence of a deep oval cavity on the medial surface of the mandibular adductor fossa below the eleventh-twelfth tooth position. Phylogenetic analyses reveal that the new Iberian form is more closely related …
Splenic marginal zone lymphoma.
2002
Splenic marginal zone lymphoma (SMZL) is a specific low-grade small B-cell lymphoma that is incorporated in the World Health Organization classification. Characteristic features are splenomegaly, moderate lymphocytosis with villous morphology, intrasinusoidal pattern of involvement of various organs, especially bone marrow, and relative indolent course. Tumor progression with increase of blastic forms and aggressive behavior are observed in a minority of patients. Molecular and cytogenetic studies have shown heterogeneous results probably because of the lack of standardized diagnostic criteria. To date, no definitive therapy has been established. Therapeutic options include treatment absten…
Genetic analysis of early lamb survival in extensively reared lambs
2005
In sheep production, lamb survival is an important economic trait (Conington et al., 2004). Therefore, this trait has been studied by many scientists, especially in countries with an extensive husbandry system. In the United Kingdom, the number of lambs dying before weaning has been estimated ranging from 5 to 40% (Eales et al., 1983).