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A genomewide screen for autism: Strong evidence for linkage to chromosomes 2q, 7q, and 16p

Lookup NU author(s): Professor Jeremy Parr, Professor Ann Le Couteur, Emerita Professor Helen McConachie, Dr Thomas Berney, Dr Thomas Kelly


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Autism is characterized by impairments in reciprocal communication and social interaction and by repetitive and stereotyped patterns of activities and interests. Evidence for a strong underlying genetic predisposition comes from twin and family studies, although susceptibility genes have not yet been identified. A whole-genome screen for linkage, using 83 sib pairs with autism, has been completed, and 119 markers have been genotyped in 13 candidate regions in a further 69 sib pairs. The addition of new families and markers provides further support for previous reports of linkages on chromosomes 7q and 16p. Two new regions of linkage have also been identified on chromosomes 2q and 17q. The most significant finding was a multipoint maximum LOD score (MLS) of 3.74 at marker D2S2188 on chromosome 2; this MLS increased to 4.80 when only sib pairs fulfilling strict diagnostic criteria were included. The susceptibility region on chromosome 7 was the next most significant, generating a multipoint MLS of 3.20 at marker D7S477. Chromosome 16 generated a multipoint MLS of 2.93 at D16S3102, whereas chromosome 17 generated a multipoint MLS of 2.34 at HTTINT2. With the addition of new families, there was no increased allele sharing at a number of other loci originally showing some evidence of linkage. These results support the continuing collection of multiplex sib-pair families to identify autism-susceptibility genes.

Publication metadata

Author(s): Le Couteur A; Kelly TP; Berney T; McConachie HR; Parr J; Palferman S; Matthews N; Turner M; Moore J; Hervas A; Aubin A; Wallace S; Michelotti J; Wainhouse C; Paul A; Thompson E; Gupta R; Garner C; Murin M; Freitag C; Ryder N; Cottington E; Pickles A; Rutter M; Bailey A; Barnby G; Lamb JA; Marlow A; Scudder P; Monaco AP; Baird G; Cox A; Docherty Z; Warburton P; Green EP; Abbs SJ; De Vries PJ; Bolton PF; Green J; Gilchrist A; Whittacker J; Bolton B; Packer R; Maestrini E; Blasi F; Van Engeland H; De Jonge MV; Kemner C; Klauck SM; Beyer KS; Epp S; Poustka A; Benner A; Goethe JW; Poustka F; Ruhl D; Schmotzer G; Boolte S; Feineis-Matthews S; Fombonne E; Rogee B; Fremolle-Kruck J; Pienkowski C; Tauber MT; Pedersen L; Nielsen KB; Eriksen G; Haracopos D; Cotterill RMJ; Tsiantis J; Papanikolaou K; Lord C; Corsello C; Guter S; Leventhal B; Cook E; Smalley SL; Bailey J; McGough J; Levitt J; Pauls D; Volkmar F; Weeks DE; Int Mol Genetic Study Autism Cons

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2001

Volume: 69

Issue: 3

Pages: 570-581

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press


DOI: 10.1086/323264


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