| Autor: |
Angela J. Marlow, Anthony Cox, Andrew Pickles, Patrick Bolton, Elaine Thompson, Lisa Chrzanowski, Pat Scudder, Kim S. Beyer, Jeanne Fremolle-Kruck, Ros Packer, Anthony P. Monaco, Annemarie Poustka, Janine Michelotti, Axel Benner, Karen Brøndum-Nielsen, Michael Rutter, Christina Corsello, Elizabeth P. Green, Tom Berney, Jane Whittacker, Fred R. Volkmar, Bennett L. Leventhal, Catherine Wainhouse, Simon Wallace, Maretha de Jonge, Elena Maestrini, Sabine M. Klauck, Claire Garner, Catherine Pienkowski, Ramyani Gupta, Alina Paul, David L. Pauls, Chantal Kemner, Edwin H. Cook, Katerina Papanikolaou, Marie Thérèse Tauber, Eric Fombonne, Pamela Warburton, Catherine Lord, Lennart Pedersen, Jonathan Green, Thomas Kelly, Amaia Hervas, Bernadette Rogé, Helen McConachie, Sabine Feineis-Matthews, Sabine Epp, Gillian Baird, Anne Aubin, Rodney M. J. Cotterill, Fritz Poustka, Janette Moore, Amy Liu, Martha Turner, Daniel E. Weeks, Janine A. Lamb, Julia Bailey, Martha Dedricks, John Tsiantis, Sven Bölte, Jennifer G. Levitt, Sarah Palferman, Gabriele Schmötzer, Nicola Matthews, Zoe Docherty, Gabrielle Barnby, Stephen Abbs, Susan L. Smalley, Bryan Bolton, Ann Le Couteur, Marianne Murin, Herman van Engeland, Dorothea Rühl, Petrus J. de Vries, Stephen J. Guter, Anthony J. Bailey, Demetrious Haracopos, Gunna Eriksen, Anne Gilchrist |
| Jazyk: |
angličtina |
| Rok vydání: |
2016 |
| Předmět: |
|
| Zdroj: |
ResearcherID |
| Popis: |
Autism is a neurodevelopmental disorder that usually arises on the basis of a complex genetic predisposition. The most significant susceptibility region in the first whole genome screen of multiplex families was on chromosome 7q, although this linkage was evident only in UK IMGSAC families. Subsequently all other genome screens of non-UK families have found some evidence of increased allele sharing in an overlapping 40 cM region of 7q. To further characterize this susceptibility locus, linkage analysis has now been completed on 170 multiplex IMGSAC families. Using a 5 cM marker grid, analysis of 125 sib pairs meeting stringent inclusion criteria resulted in a multipoint maximum LOD score (MLS) of 2.15 at D7S477, whereas analysis of all 153 sib pairs generated an MLS of 3.37. The 71 non-UK sib pairs now contribute to this linkage. Linkage disequilibrium mapping identified two regions of association-one lying under the peak of linkage, the other some 27 cM distal. These results are supported in part by findings in independent German and American singleton families. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
