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A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium
Abstract:
Autism is characterized by impairments in reciprocal social interaction andcommunication, and restricted and sterotyped patterns of interests andactivities. Developmental difficulties are apparent before 3 years of ageand there is evidence for strong genetic influences most likely involvingmore than one susceptibility gene. A two-stage genome search forsusceptibility loci in autism was performed on 87 affected sib pairs plus12 non-sib affected relative-pairs, from a total of 99 families identifiedby an international consortium. Regions on six chromosomes (4, 7, 10, 16,19 and 22) were identified which generated a multipoint maximum lod score(MLS) > 1. A region on chromosome 7q was the most significant with anMLS of 3.55 near markers D7S530 and D7S684 in the subset of 56 UK affectedsib-pair families, and an MLS of 2.53 in all 87 affected sib-pair families.An area on chromosome 16p near the telomere was the next most significant,with an MLS of 1.97 in the UK families, and 1.51 in all families. Theseresults are an important step towards identifying genes predisposing toautism; establishing their general applicability requires further study.
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