Article
Adenosine deaminase alleles and autistic disorder: case-control and family-based association studies.
American journal of medical genetics - 4 Dec 2000
Persico A M, Militerni R, Bravaccio C, Schneider C, Melmed R, Trillo S, Montecchi F, Palermo M T, Pascucci T, Puglisi-Allegra S, Reichelt K L, Conciatori M, Baldi A, Keller F
Abstract excerpt
Adenosine deaminase (ADA) plays a relevant role in purine metabolism, immune responses, and peptidase activity, which may be altered in some autistic patients. Codominant ADA1 and ADA2 alleles code for ADA1 and ADA2 allozymes, the most frequent protein isoforms in the general population. Individuals carrying one copy of the ADA2 allele display 15 to 20% lower catalytic activity compared to ADA1 homozygotes....
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