作者
S Barrett, JC Beck, R Bernier, E Bisson, TA Braun, TL Casavant, D Childress, SE Folstein, M Garcia, MB Gardiner, S Gilman, JL Haines, K Hopkins, R Landa, NH Meyer, JA Mullane, DY Nishimura, P Palmer, J Piven, J Purdy, SL Santangelo, C Searby, V Sheffield, J Singleton, S Slager, T Struchen, S Svenson, V Vieland, K Wang, B Winklosky
发表日期
2001
期刊
AMERICAN JOURNAL OF MEDICAL GENETICS
卷号
105
期号
8
页码范围
805
简介
Autism is a severe neurodevelopmental disorder defined by social and communication deficits and ritualistic-repetitive behaviors that are detectable in early childhood. The etiology of idiopathic autism is strongly genetic, and oligogenic transmission is likely. The first stage of a two-stage genomic screen for autism was carried out by the Collaborative Linkage Study of Autism on individuals affected with autism from 75 families ascertained through an affected sib-pair. The strongest multipoint results were for regions on chromosomes 13 and 7. The highest maximum multipoint heterogeneity LOD (MMLS/het) score is 3.0 at D13S800 (approximately 55 cM from the telomere) under the recessive model, with an estimated 35% of families linked to this locus. The next highest peak is an MMLS/het score of 2.3 at 19 cM, between D13S217 and D13S1229. Our third highest MMLS/het score of 2.2 is on chromosome 7 and is consistent with the International Molecular Genetic Study of Autism Consortium report of a possible susceptibility locus somewhere within 7q31-33. These regions and others will be followed up in the second stage of our study by typing additional markers in both the original and a second set of identically ascertained autism families, which are currently being collected. By comparing results across a number of studies, we expect to be able to narrow our search for autism susceptibility genes to a small number of genomic regions.(C) 1999 Wiley-Liss, Inc.
学术搜索中的文章
S Barrett, JC Beck, R Bernier, E Bisson, TA Braun… - AMERICAN JOURNAL OF MEDICAL GENETICS, 2001