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Genetica formale Metodo e prove sperimentali di Mendel Caratteri singoli e segregazione, Caratteri e assortimento indipendente, Esperienze mendeliane "ieri ed oggi", I Leggi di Mendel, I Caratteri mendeliani e reincrocio IGenetica "oltre" Mendel Dominanza incompleta Codominanza Significato e valore della dominanza e della recessività Alleila multipla Pleiotropia Interazione tra geni Alleli letali Linkage: esperienze di Morgan e associazione genica Associazione completa e associazione incompleta Basi biologiche della ricombinazione Complesso sinaptonemale, rotture a doppio filamento e crossing over Mappe fisiche e mappe genetiche Ambiente e geni L'ambiente e l'espressione dei geni: penetranza ed espressività Poligenia ed ereditarietà quantitativa Sesso e geni Determinazione del sesso nelle specie animali Cromosomi sessuali, X e Y

OBIETTIVI: Uno studio retrospettivo nelle donne della Provincia di Lecce sottoposte a test di screening dell’infezione da HPV nel periodo 2006-2008 è stato effettuato per stimare la prevalenza globale e per classi di età; identificare e analizzare i genotipi ad alto e basso rischio e valutare la presenza di infezioni singole e multiple. MATERIALI: Sono stati raccolti e analizzati i dati provenienti da tutti i centri della Provincia che eseguono la ricerca e l’identificazione dei genotipi con HPV-DNA test. Nel periodo esaminato sono stati analizzati 4.030 campioni di scrape-cervicale/citobrush di donne sottoposte a test di screening di età compresa tra 0 e 85 anni (età media 35,4±10,5 anni). RIASSUNTO: La prevalenza complessiva del virus era del 20,7% (IC95%: 19,5-22,0) [alto-rischio (HR) 16,9%, basso-rischio (LR) 5,7%]. I valori più elevati sono stati osservati nella fascia di età 20-24 anni (27,2%; IC95%: 23,1-31,3) con una associazione altamente significativa (p

Endometrial Cancer is the more frequent tumor in Occidental ands, with 142,000 new cases for year and 42,000 deaths; this cancer typically trikes women between 55 and 65 years and it is on the fourth place in female tumors. Edogen predisposing conditions to endometrial cancer development are: late menopause, early menarche, and hyperestrogenism, while hormone replacement theraphy, obesity, alcoholm diabetes, diet rich of animal fats and chronic liver disease represent exogenous factors. This tumor can arise even as hereditary predisposition, as in Lynch Syndrome or HNPCC (Hereditary NonPolyposis Colorectal Cancer), since the genetic modifications induced by "mismatch repair" (MMR) genes lead to a tumoral development susceptibility, not only in colon. The phenotypical consequence of these genetic modifications is the microsatellite instability (MSI) and in loss of heterozygosity (LOH), whom create the RER (replication errors in repeats) positive phenotype, who express the incapability to repair short nucleotide insertions or deletions, generates by an uncorrected DNA replication; by these genetic modifications, new allelic variants arise in endometrial tissue, confirming te elevate degree of genetic disorder. Recent studies showed that the MSI and LOH in endomerial cells can be associated to the loss of cellular control expression and to degeneration of cellular growth phenomenon. It exist the possibility to utilize these new genetic markers in the endometrial mucosa, to study by genomic these tissue and to detect the possible neoplastic transformation.

Introduzione: I papillomavirus umani (HPV) sono piccoli virus a DNA, suddivisi vari genotipi, con rischio di trasformazione oncogena per integrazione del DNA virale nel DNA cellulare; nello studio abbiamo cercato di discriminare i singoli genotipi di HPV in una popolazione salentina a rischio, afferente al Laboratorio di Biologia Molecolare e Oncologia Sperimentale (LBMOS) del Presidio Ospedaliero “Vito Fazzi” di Lecce. Materiali e metodi: Durante il biennio 2006-2007, sono stati analizzati 816 campioni di muco cervico-vaginale di donne con sospetto di HPV, o recente/pregresso episodio di infezione, con amplificazione di ORF L1. Con sequenziamento e ibridazione con sonde, siamo andati a ricercare ogni specifico genotipo di HPV presente nella popolazione a rischio. Risultati: Analizzando 816 campioni, l’HPV è risultati essere presente in 183 casi (22.4%), con un trend di crescita dal 19%del 2006 al 27%del 2007; la ricerca dei genotipi ha prodotto 37 genotipi differenti di HPV e, fra questi, i casi con maggiore frequenza sono stati quelli di HPV-16 con 37 casi (13,81%), seguiti dall’HPV-6 con 27 casi (10.07%), dall’HPV-53 con 25 casi (9.33%) e, infine, HPV-31 con 21 casi (7.84%). Successivamente apparivano, con percentuali inferiori, il genotipo 53 (MR-HPV), il genotipo 31 e il genotipo 18 (HR-HPV), poi il genotipo 66 (MRHPV), il genotipo 58 (HR-HPV) e il ceppo 61 (MR-HPV). Conclusioni: Il sequenziamento molecolare risulta il “Gold Standard” nella ricerca dell’HPV; tale metodica ha individuato, nel territorio salentino, una maggiore presenza di HPV-16 seguito, in misura ridotta, dall’HPV-6 e da altri ceppi. Tali percentuali dimostrano una specifica realtà epidemiologica e, probabilmente, tali dati, se implementati, potrebbero rivelare una realtà differente rispetto a quella della letteratura scientifica, utile per programmare la profilassi vaccinica e la realizzazione di nuovi vaccini mirati.

ANALISI DI POLIMORFISIMI STR NELLA SICILIA OCCIDENTALE.

UNA NUOVA METODICA DI ESTRAZIONE DEL DNA PER USO FORENSE DA REPERTI OSSEI CARBONIZZATI

Influenza is an important public problem in relation to the considerable epidemiological impact in terms of morbidity and mortality. Surveillance is therefore central to monitor the spread of this infection in the population of a specific area. For these reasons, virological, clinical and epidemiological surveillance were conducted during the 2000/2001 influenza season in the area of Lecce. The surveillance activities were part of a national influenza surveillance programme. A team of sentinel physicians, voluntary general practitioners and pediatricians, monitored a sample of 1% of the total population. These doctors reported weekly the number of patients with influenza-like illness (ILI) or acute respiratory illness (ARI), indicating if these patients had or had not received influenza vaccine. In parallel with the clinical and epidemiological surveillance, virological surveillance was also carried out in a group of patients meeting the ILI criteria. Samples of nasal and pharyngeal secretions were collected from these patients in order to isolate and identify any influenza viruses. The epidemiological surveillance showed that most of the patients affected by influenza were young subjects aged up to 14 years and adults aged 15-64 years. They were mostly non-vaccinated subjects. The average rate of incidence for the 2000/2001 season was 3.03/1,000 inhabitants. Virological surveillance evidenced that during the 2000/2001 influenza season all cases were associated to the A/H1N1 virus.

Influenza is an important public health problem in relation to the considerable epidemiological impact in terms of morbidity and mortality. Surveillance is therefore central to monitor the spread of this infection in the population of a specific area. For these reasons, virological, clinical and epidemiological surveillance were conducted during the 2000/2001 influenza season in the area of Lecce. The surveillance activities were part of a national influenza surveillance programme. A team of sentinel physicians, voluntary general practitioners and paediatricians, monitored a sample of 1% of the total population. These doctors reported weekly the number of patients with influenza-like illness (ILI) or acute respiratory illness (ARI), indicating if these patients had or had not received influenza vaccine. In parallel with the clinical and epidemiological surveillance, virological surveillance was also carried out in a group of patients meeting the ILI criteria. Samples of nasal and pharyngeal secretions were collected from these patients in order to isolate and identify any influenza viruses. The epidemiological surveillance showed that most of the patients affected by influenza were young subjects aged up to 14 years and adults aged 15-64 years. They were mostly non-vaccinated subjects. The average rate of incidence for the 2000/2001 season was 3.03/1000 inhabitants. Virological surveillance evidenced that during the 2000/2001 influenza season all cases were associated to the A/H I N 1 virus.

The elevation of aminotransferase serum levels is frequently encountered in pediatric practice. We have retrospectively evaluated the clinical patterns of 108 patients with chronic, so called "idiopathic", alterations of aminotransferases, by sending a questionnaire to 11 Italian Pediatric Centers. The average period of follow-up was 22 months. Patients, whose ages ranged through all pediatric ages, were mostly asymptomatic and with a rather insignificant physical examination. The average rise of aminotransferases value was generally limited within 2 times the upper normal level and the highest value, during the period of follow-up, never exceeded 5 times the upper normal level. Other liver function tests did not result generally altered significant. Just 25,9% of the patients normalized aminotransferases serum level during the follow-up period. All maintained good physical status with no clinical signs of liver disease. A muscular cause of hyper-transaminasemia was excluded in all the cases. Possible infective causes (HBV and HCV) autoimmune hepatitis, Wilson disease, alfa1 antitripsine deficiency and hyperammoniemia were excluded. Ultrasound investigation did not seem to be a sensitive investigation, resulting negative in 54/82. Histologic liver examination was more informative. This evaluation, performed in 46/108 patients, showed infarct metabolic alterations (steatosis, nucleus glucogenic degeneration, cytoplasmatic clarification) in 65% of cases and inflammatory findings in only 13% of cases. In conclusion, our results suggest the opportunity to enclose liver histologic study in the diagnostic approach of children with hepatic idiopathic chronic hypertransaminasemia. This approach may address the clinician, in a more aimed way, towards further investigations.