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Scanning and Linking For Autism

 
  October, 16 2009 4:26
your information resource in human molecular genetics
 
     

A double-pronged approach to uncovering genetic variants involved in autism is published in Nature. The research describes both genome-wide association - to show common variants - and linkage mapping - to find rarer mutations - in over a thousand families with autism. Mark Daly and colleagues find regions to target for rare variation screening, and the team also discover a single novel association on chromosome 5 in the vicinity of a gene implicated in axonal guidance.

Autism is a highly heritable neurodevelopmental disorder and yet only very few specific susceptibility genes have been identified so far. This genome-wide scan uses half a million genome-wide single nucleotide polymorphisms in a common set of 1,031 multiplex autism families and reveals significant linkage and association to autism. The researchers believe that their work provides new insights into the biology and development of this disorder.

CONTACT

Mark Daly (Massachusetts General Hospital, Boston, MA, USA)
Email: mjdaly@chgr.mgh.harvard.edu

(C) Nature press release.


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