Valutazione della possibilità di utilizzo del DNA estratto da campioni di latte dei controlli funzionali per l'attribuzione della paternità tramite Microsatelliti nei piccoli ruminanti

The aims of the present work were to get ready an economic, rapid and toxic solvent-free method to extract DNA from sheep milk somatic cells and to set up a system of microsatellites for paternity assignment in Sarda sheep breed. During the years, several techniques which describe the isolation of genomic DNA from somatic cells of cow and goat milk have been reported. Milk is preferred to blood as a source of DNA because its collection is routinely performed, less expensive and more easily accomplished than blood collection. Moreover milk use limits stressful practices such as capture, handling and venipuncture in animal management. A rapid alkaline method resulted most suitable as method for DNA extraction from sheep milk because fast and economic. Genomic DNA was extracted from somatic cells starting from 20 mL of sheep milk and used as substrate for the polymerase chain reaction. A system of 10 highly informative microsatellites (MCM058, LSCV06, BM6444, BMS2213, CSSM43, BMS2252, MCM120, OLADRB, MCM373, BMS0360) was chosen and spread in 3 multiplex for paternity assignment in the Sarda breed. The proposed system would be a useful alternative to traditional pedigree recording in the Sarda breed. Not only it had a high probability of excluding incorrect parental (Pe=0.99996) relationships but it also provided a high percentage of unequivocal paternity assignment (P=1.0 in a simulated population). Its regular utilization would increase the number of individuals with known ancestors in the Sarda breed, with favorable consequences on the number of genetically evaluated animals and the precision of their breeding values estimation. OLADRB, MCM373, BMS0360) was chosen and spread in 3 multiplex for paternity assignment in the Sarda breed. The proposed system would be a useful alternative to traditional pedigree recording in the Sarda breed. Not only it had a high probability of excluding incorrect parental (Pe=0.99996) relationships but it also provided a high percentage of unequivocal paternity assignment (P=1.0 in a simulated population). Its regular utilization would increase the number of individuals with known ancestors in the Sarda breed, with favorable consequences on the number of genetically evaluated animals and the precision of their breeding values estimation

Genetic variation of goat Y chromosome in the Sardinian population

Sardinian goat population is commonly considered a crossbred of autochthonous animals with improved Mediterranean breeds, mainly the Maltese. It has been demonstrated by using autosomal microsatellites that the Sardinian goats can be divided into three subpopulations: Sardinian, crossbred with Maltese, and Maltese. The aim of this study was to evaluate sequence variation at Y chromosome in Sardinian bucks and to integrate autosomal microsatellites data. Blood from 190 bucks from 68 farms spread in the main Sardinian goat farming areas was sampled. Three ECONOGENE project primer pairs plus an additional one corresponding to a total of 7 SNPs were used. For all common SNPs, the most frequent allele corresponded to the ECONOGENE one. The additional analysed SNP showed allelic frequencies similar to the other markers. The comparison with haplotypes based on the 6 common SNPs showed that the Sardinian most frequent haplotype corresponded to the predominant one in Central Europe. Results of this study showed that the Sardinian goat population has 8 haplotypes resulting in a large diversity of paternal lineages. The next step will be linking autosomal information to Y chromosome data. In fact, up to date, it seems unfeasible to detect recent upgrading breeds by using Y chromosome variation only

Bilancio di 10 anni di selezione per la resistenza genetica alla Scrapie nella popolazione iscritta al Libro Genealogico della razza ovina Sarda

La selezione genetica per la resistenza alla Scrapie è stata avviata in Sardegna nel 2000. L’attività di selezione è stata rivolta inizialmente agli arieti del centro di FA della razza Sarda. Successivamente in seguito alle direttive dell’Unione Europea (Decisione 2003/100/CE) e delle Linee Guida Nazionali, è stato avviato nel 2004 il Piano Regionale della Sardegna (PR). Il PR inizialmente ha reso obbligatoria l’adesione solo agli allevatori iscritti al Libro Genealogico (LG). Nel 2009 l’adesione è stata resa obbligatoria a tutti gli allevamenti (Decreto Assessorato dell’Igiene e Sanità e dell’Assistenza Sociale n. 615/DecA/ 4 29/04/2009). L’obiettivo principale del PR è l’incremento della frequenza dell’allele resistente (ARR). L’attuale PR prevede l’impossibilità di movimentare arieti omozigoti sensibili (tipo ARQ/ARQ) in tutto il territorio regionale e stabilisce al 31 dicembre 2011 la data ultima per il loro utilizzo negli allevamenti. Il PR prevede anche l’adozione di una strategia selettiva che limiti l’impatto sul progresso genetico per i caratteri produttivi. A tal fine vengono fornite indicazioni affinché gli allevatori privilegino a parità di genotipo PrP arieti del LG. Inoltre, le norme che regolano il funzionamento degli arieti nel LG sono state modificate consentendo a giovani maschi non ancora provati per la produzione di latte ma con indice pedigree elevato e genotipo omozigote resistente di essere impiegati come padri d’ariete. Inoltre, al fine di recuperare importanti linee di sangue particolarmente valide per la produzione di latte ma di genotipo sensibile sono stati realizzati accoppiamenti tra arieti di elevato valore genetico per la produzione di latte con pecore omozigoti resistenti al fine di produrre una progenie resistente. L’obiettivo di questo lavoro è presentare il bilancio genetico delle attività di selezione al fine di verificare la potenziale disponibilità di genotipi resistenti di buon livello genetico per i caratteri produttivi per l’intera popolazione di razza Sarda

The genomic landscape of chronic lymphocytic leukaemia: biological and clinical implications

Chronic lymphocytic leukaemia (CLL) remains at the forefront of the genetic analysis of human tumours, principally due its prevalence, protracted natural history and accessibility to suitable material for analysis. With the application of high-throughput genetic technologies, we have an unbridled view of the architecture of the CLL genome, including a comprehensive description of the copy number and mutational landscape of the disease, a detailed picture of clonal evolution during pathogenesis, and the molecular mechanisms that drive genomic instability and therapeutic resistance. This work has nuanced the prognostic importance of established copy number alterations, and identified novel prognostically relevant gene mutations that function within biological pathways that are attractive treatment targets. Herein, an overview of recent genomic discoveries will be reviewed, with associated biological and clinical implications, and a view into how clinical implementation may be facilitated