ABNORMAL-BEHAVIOR ASSOCIATED WITH A POINT MUTATION IN THE STRUCTURAL GENE FOR MONOAMINE OXIDASE-A
ABNORMAL-BEHAVIOR ASSOCIATED WITH A POINT MUTATION IN THE STRUCTURAL GENE FOR MONOAMINE OXIDASE-A
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DOI：
10.1126/science.8211186
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发表时间：
1993-10-22
期刊：
影响因子：
56.9
通讯作者：
VANOOST, BA
中科院分区：
文献类型：
--
作者：
BRUNNER, HG;NELEN, M;VANOOST, BA
对一个大型家族进行了遗传和代谢研究，其中一些男性患有边缘性智力迟钝和行为异常综合症。发生的行为类型包括冲动攻击、纵火、强奸未遂和暴露狂。 24 小时尿液样本分析表明单胺代谢明显紊乱。该综合征与单胺氧化酶 A (MAOA) 酶活性完全且选择性缺乏有关。在 5 名受影响的男性中，每人的 MAOA 结构基因的第八个外显子中均发现了点突变，该突变将谷氨酰胺变为终止密码子。因此，该家族中孤立的完全 MAOA 缺陷与可识别的行为表型相关，其中包括冲动攻击的调节紊乱。
Genetic and metabolic studies have been done on a large kindred in which several males are affected by a syndrome of borderline mental retardation and abnormal behavior. The types of behavior that occurred include impulsive aggression, arson, attempted rape, and exhibitionism. Analysis of 24-hour urine samples indicated markedly disturbed monoamine metabolism. This syndrome was associated with a complete and selective deficiency of enzymatic activity of monoamine oxidase A (MAOA). In each of five affected males, a point mutation was identified in the eighth exon of the MAOA structural gene, which changes a glutamine to a termination codon. Thus, isolated complete MAOA deficiency in this family is associated with a recognizable behavioral phenotype that includes disturbed regulation of impulsive aggression.