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Autism genetics: Methodological issues and experimental design

Science China(Life Sciences) 2015年第10期58卷 946-957页

作者： Roberto SACCO carla lintas Antonio M.PERSICO Department of Child Neuropsychiatry and Laboratory of Molecular Psychiatry and Neurogenetics University "Campus Bio-Medico" Department of Experimental Neurosciences I.R.C.C.S."Fondazione Santa Lucia"

Autism is a complex neuropsychiatric disorder of developmental origin, where multiple genetic and environmental factors likely interact resulting in a clinical continuum between "affected" and "unaffected" individuals in the general population. During the last two decades, relevant progress has been made in identifying chromosomal regions and genes in linkage or association with autism, but no single gene has emerged as a major cause of disease in a large number of patients. The purpose of this paper is to discuss specific methodological issues and experimental strategies in autism genetic research, based on fourteen years of experience in patient recruitment and association studies of autism spectrum disorder in Italy.

关键词： autistic disorder endophenotype genetic association genetics pervasive developmental disorders

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Urinary polyomavirus infections in neurodevelopmental disorders

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Open Journal of Psychiatry 2013年第2期3卷 18-25页

作者： Ivan Gentile Laura Altieri carla lintas Roberto Sacco Paolo Curatolo Arianna Benvenuto Filippo Muratori Elisa Santocchi Carmela Bravaccio Carlo Lenti Raffaella Faggioli Roberto Rigardetto Marina Gandione Giuseppe Portella Emanuela Zappulo Guglielmo Borgia Antonio M. Persico Department of Child Neurology and Psychiatry I.R.C.C.S. “Stella Maris” University of Pisa Pisa Italy Department of Child Neuropsychiatry University “Tor Vergata” Rome Italy Department of Child Neuropsychiatry University of Milan Italy Department of Child Neuropsychiatry University of Turin Turin Italy Department of Clinical Medicine and Surgery University of Naples “Federico II” Naples Italy Department of Experimental Neurosciences I.R.C.C.S. “Fondazione Santa Lucia” Rome Italy Department of Translational Medical Science University “Federico II” Naples Italy Fondazione Teda per l’Autismo ONLUS Turin Italy Mafalda Luce Center for Pervasive Developmental Disorders Milan Italy Unit of Child and Adolescent Neuropsychiatry Laboratory of Molecular Psychiatry and Neurogenetics University “Campus Bio- Medico” Rome Italy

We have recently reported enhanced frequencies of polyomavirus infection in post-mortem brain tissue of autistic patients compared to controls. To further explore potential contributions to neurodevelopmental disorders by polyomaviruses, we have employed specie-specific TaqMan assays to assess the prevalence and titres of BKV, JCV and SV40 inthe urines of 87 patients with autism spectrum disorder, 84 controls matched by sex and age with the autistic sample, 15 subjects with Down syndrome and 13 fragile X individuals. Prevalence rates of urinary BKV infection were significantly greater in Down syndrome and fragile X patients compared to autistic and control individuals (P < 0.01). In a large majority of patients who showed the presence of urinary genomes, viral titres resulted significantly higher among Down syndrome patients (P < 0.01) compared to controls, autism spectrum disorder and fragile X individuals, who did not significantly differ from each other. Our results are consistent with previous evidence supporting hampered immunological surveillance and/or immune deficits in fragile X and especially in Down syndrome patients.

关键词： Autism BKV Down Syndrome Fragile X Syndrome JCV SV40

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