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01-01-2008 | Original Paper

The G22A Polymorphism of the ADA Gene and Susceptibility to Autism Spectrum Disorders

Auteurs: Joe A. Hettinger, Xudong Liu, Jeanette Jeltje Anne Holden

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 1/2008

Abstract

Inborn errors of purine metabolism have been implicated as a cause for some cases of autism. This hypothesis is supported by the finding of decreased adenosine deaminase (ADA) activity in the sera of some children with autism and reports of an association of the A allele of the ADA G22A (Asp8Asn) polymorphism in individuals with autism of Italian-descent. We tested the ADA G22A polymorphism in 126 North American affected sib-pair families but found no aberrant allele distributions in cases versus controls. Instead, we found an increased transmission of the G allele from fathers to affected children. Our findings suggest that the ADA G22A polymorphism plays a minimal role in susceptibility to autism in North American families.

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Titel: The G22A Polymorphism of the ADA Gene and Susceptibility to Autism Spectrum Disorders
Auteurs: Joe A. Hettinger
Xudong Liu
Jeanette Jeltje Anne Holden
Publicatiedatum: 01-01-2008
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 1/2008
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-006-0354-0

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