Journal Article

Further characterization of the autism susceptibility locus <i>AUTS1</i> on chromosome 7q

International Molecular Genetic Study of Autism Consortium

in Human Molecular Genetics

Volume 10, issue 9, pages 973-982
Published in print April 2001 | ISSN: 0964-6906
Published online April 2001 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/10.9.973
Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q

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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.

Journal Article.  7929 words.  Illustrated.

Subjects: Genetics and Genomics

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