Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism

Chromosomal region 15q11-q13 has been implicated to harbor a susceptibility gene or genes underlying autism. Evidence has been derived from the existe nce of cytogenetic anomalies in this region associated with autism, and the report of linkage in a modest collection of multiplex families. Most recen tly, linkage disequilibrium with the marker GABRB3-155CA2 in the candidate locus GABRB3, located in this region, has been reported. We searched for li nkage using eight microsatellite markers located in this region of chromoso me 15 in 147 affected sib-pairs from 139 multiplex autism families. We also tested for linkage disequilibrium in the same set of families with the sam e markers. We found no evidence for excess allele sharing (linkage) for the markers in this region. Also, we found no evidence of linkage disequilibri um, including for the locus GABRB3-155CA2. Thus, it appears that the role o f this region of chromosome 15 is minor, at best, in the majority of indivi duals with autism. (C) 1999 Wiley-Liss, Inc.