A genomewide screen for autism: Strong evidence for linkage to chromosomes 2q, 7q, and 16p
| Autor: | Elizabeth P. Green, David Pauls, Katerina Papanikolaou, Amaia Hervas, Alina Paul, De, Vries, Pj, Lennart Pedersen, Axel Benner, Catherine Lord, Fred R. Volkmar, Sabine Feineis-Matthews, Jennifer G. Levitt, Angela J. Marlow, Helen McConachie, Emily J. Thompson, Claire Garner, Catherine Pienkowski, Janette Moore, Gabriele Schmötzer, Nicola Matthews, Nuala Ryder, Anne Gilchrist, De, Jonge, Mv, Van, Engeland, H, Anne Aubin, Christine M. Freitag, Stephen Abbs, Ros Packer, Catherine Wainhouse, Antony Cox, KB Nielsen, Susan L. Smalley, Daniel E. Weeks, Bryan Bolton, Eric Fombonne, S Boolte, Francesca Blasi, Sabine M. Klauck, Rmj Cotterill, Andrew Pickles, Kim S. Beyer, Gillian Baird, Annemarie Poustka, Marianne Murin, Christina Corsello, Int, Mol, Genetic, Study, Autism, Cons, Elena Maestrini, Simon Wallace, Anthony P. Monaco, Julia Bailey, Janine Michelotti, Thomas Kelly, Le, Couteur, A, Stephen J. Guter, Anthony J. Bailey, B Rogee, Sarah Palferman, Demetrious Haracopos, Gunna Eriksen, James J. McGough, Zoe Docherty, Maïté Tauber, E Cottington, Patrick Bolton, Martha Turner, Fritz Poustka, Jeanne Fremolle-Kruck, Gabrielle Barnby, Dorothea Rühl, John Tsiantis, Pat Scudder, Bennett L. Leventhal, T Berney, Michael Rutter, Jeremy R. Parr, Edwin H. Cook, Pamela Warburton, Chantal Kemner, Jane Whittacker, Ramyani Gupta, Sabine Epp, JW Goethe, Jonathan Green, Janine A. Lamb |
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Molecular Sequence Data
Biology 03 medical and health sciences 0302 clinical medicine Chromosome 16 Genetics medicine Humans Heritability of autism Genetic Predisposition to Disease Genetic Testing Allele Autistic Disorder Genetics (clinical) X chromosome Alleles 030304 developmental biology Chromosome 7 (human) 0303 health sciences Chromosome Articles medicine.disease Chromosome 17 (human) Chromosomes Human Pair 2 Autism 030217 neurology & neurosurgery Chromosomes Human Pair 16 Chromosomes Human Pair 7 |
| Zdroj: | ResearcherID |
| Popis: | Autism is characterized by impairments in reciprocal communication and social interaction and by repetitive and stereotyped patterns of activities and interests. Evidence for a strong underlying genetic predisposition comes from twin and family studies, although susceptibility genes have not yet been identified. A whole-genome screen for linkage, using 83 sib pairs with autism, has been completed, and 119 markers have been genotyped in 13 candidate regions in a further 69 sib pairs. The addition of new families and markers provides further support for previous reports of linkages on chromosomes 7q and 16p. Two new regions of linkage have also been identified on chromosomes 2q and 17q. The most significant finding was a multipoint maximum LOD score (MLS) of 3.74 at marker D2S2188 on chromosome 2; this MLS increased to 4.80 when only sib pairs fulfilling strict diagnostic criteria were included. The susceptibility region on chromosome 7 was the next most significant, generating a multipoint MLS of 3.20 at marker D7S477. Chromosome 16 generated a multipoint MLS of 2.93 at D16S3102, whereas chromosome 17 generated a multipoint MLS of 2.34 at HTTINT2. With the addition of new families, there was no increased allele sharing at a number of other loci originally showing some evidence of linkage. These results support the continuing collection of multiplex sib-pair families to identify autism-susceptibility genes. |
| Databáze: | OpenAIRE |
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