Autism: evidence of association with adenosine deaminase genetic polymorphism

被引：57

作者：

Bottini, N

De Luca, D

Saccucci, P

Fiumara, A

Elia, M

Porfirio, MC

Lucarelli, P

Curatolo, P

机构：

[1] Univ Roma Tor Vergata, Dept Neurosci, Pediat Neurol Unit, I-00133 Rome, Italy

[2] Univ Roma Tor Vergata, Dept Internal Med, I-00133 Rome, Italy

[3] Anni Verdi Res Ctr Autism, Rome, Italy

[4] Natl Res Council, Ctr Evolutionary Genet, Rome, Italy

[5] Univ Catania, Dept Pediat, Catania, Italy

[6] IRCCS Troina, Dept Neurol, Troina, Italy

来源：

NEUROGENETICS | 2001年 / 3卷 / 02期

关键词：

adenosine deaminase; autism; purine; genetics;

D O I：

10.1007/s100480000104

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Reduced adenosine deaminase (ADA) activity has been reported in sera of autistic children relative to controls. Additionally, the Asn allele of the ADA Asp8Asn polymorphism has been associated with reduced enzymatic activity. Therefore, we studied this polymorphism in autistic children and controls from two Italian populations. We observed a significantly elevated frequency of the low-activity Asn allele in the total sample of autistic cases relative to controls (P<0.00001), and in both study populations (P<0.001 and P<0.025). We suggest that this putative genotype-dependent reduction in ADA activity may be a risk factor for the development of autism.

引用

页码：111 / 113

页数：3

共 25 条

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