A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q and 16p
Le, Couteur, A,Thomas Kelly,T Berney,Helen McConachie,Jeremy R. Parr,Sarah Palferman,Nicola Matthews,Martha Turner,Janette Moore,Amaia Hervas,Anne Aubin,Simon Wallace,Janine Michelotti,Catherine Wainhouse,Alina Paul,Emily J. Thompson,Ramyani Gupta,Claire Garner,Marianne Murin,Christine M. Freitag,Nuala Ryder,E Cottington,Andrew Pickles,Michael Rutter,Anthony J. Bailey,Gabrielle Barnby,Janine A. Lamb,Angela J. Marlow,Pat Scudder,Anthony P. Monaco,Gillian Baird,Antony Cox,Zoe Docherty,Pamela Warburton,Elizabeth P. Green,Stephen Abbs,De, Vries, Pj,Patrick Bolton,Jonathan Green,Anne Gilchrist,Jane Whittacker,Bryan Bolton,Ros Packer,Elena Maestrini,Francesca Blasi,Van, Engeland, H,De, Jonge, Mv,Chantal Kemner,Sabine M. Klauck,Kim S. Beyer,Sabine Epp,Annemarie Poustka,Axel Benner,JW Goethe,Fritz Poustka,Dorothea Rühl,Gabriele Schmötzer,S Boolte,Sabine Feineis-Matthews,Eric Fombonne,B Rogee,Jeanne Fremolle-Kruck,Catherine Pienkowski,Maïté Tauber,Lennart Pedersen,KB Nielsen,Gunna Eriksen,Demetrious Haracopos,Rmj Cotterill,John Tsiantis,Katerina Papanikolaou,Catherine Lord,Christina Corsello,Stephen J. Guter,Bennett L. Leventhal,Edwin H. Cook,Susan L. Smalley,Julia Bailey,James J. McGough,Jennifer G. Levitt,David Pauls,Fred R. Volkmar,Daniel E. Weeks,Int, Mol, Genetic, Study, Autism, Cons +83 more
TLDR
The addition of new families and markers provides further support for previous reports of linkages on chromosomes 7q and 16p and two new regions of linkage have also been identified on chromosomes 2q and 17q.Abstract:
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.read more
Citations
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Advances in autism genetics: on the threshold of a new neurobiology
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