Genetic characterization of South Spain Boar

The wild boar, a cinegetic species of Iberian Peninsula, has numerous sub-populations of Sus scrofa mediterraneus. Doñana National Park is the most important biological reserves in Spain and the largest protected area with great ecological diversity, distributed on three basic types of ecosystems: sand dunes, beaches and marshes. Here live together a variety of species: mammals, birds, reptiles, fishes... and, among them, the wild boar. In order to determine the genetic diversity, also in comparison with other Spanish populations, we studied 25 microsatellite pigs markers and found genetic variation within and among populations by analysis of heterozygosity (0.53), number of alleles (5.60), deviation by HW equili-brium and Fis index (0.02).El jabalí de interés cinegético en la península Ibérica, cuenta con numerosas sub-poblaciones de Sus scrofa mediterraneus. El Parque Nacional Doñana es la reserva biológica más importante de España y la mayor superficie protegida con gran diversidad ecológica distribuida en tres tipos básicos de ecosistemas: dunas, playas y marismas en los que cohabita gran variedad de mamíferos, aves, reptiles, peces.... entre los que se cuentan poblaciones de jabalí. Para conocer su diversidad genética, en comparación con otras poblaciones españolas, se han estudiado 25 marcadores microsatélites porcinos y se ha determinado la variación genética dentro y entre poblaciones mediante el análisis de la heterocigosis (0,53), número de alelos (5,60), desviación del equilibrio de HW y Fis (0,02)

A new potential oncogenic mutation in the FERM domain of JAK2 in BCR-ABL1 negative and V617F negative chronic myeloproliferative neoplasms (CMPNs) revealed by a comprehensive screening of 17 tyrosine kinase coding genes

BCR/ABL1-negative chronic myeloproliferative neoplasms (CMPNs) are a heterogeneous group of clonal hematological malignancies. Over recent years, some genetic events in tyrosine kinase (TK) genes have been described as causal events of these diseases. To identify new genetic aberrations underlying these diseases, we used denaturing high performance liquid chromatography and fluorescence in situ hybridization (FISH) to analyze 17 genes from two receptor-TK families (III and IV) and from three cytoplasmic-TK families (Syk, Abl, and Jak) on samples from 44 BCR/ABL1-negative and JAK2(V617F)-negative CMPN patients with different clinical phenotypes. Although screening by FISH did not reveal novel chromosomal aberrations, several sequence changes were detected. None of them were frequent events, but we identified a new potential activating mutation in the FERM domain of JAK2(R340Q). None of the germline JAK2(V617F) single-nucleotide polymorphisms detected differed in distribution between patients and control subjects. In summary, data presented here show that these genes are not frequently mutated or rearranged in CMPNs, suggesting that molecular events causing these disorders must be located in other genes