A functional polymorphism in the monoamine oxidase A gene promoter

被引：867

作者：

Sabol, SZ ^{[1
]}

Hu, S ^{[1
]}

Hamer, D ^{[1
]}

机构：

[1] NCI, Biochem Lab, NIH, Bethesda, MD 20892 USA

来源：

HUMAN GENETICS | 1998年 / 103卷 / 03期

关键词：

D O I：

10.1007/s004390050816

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a new polymorphism upstream of the gene for monoamine oxidase A (MAOA), an important enzyme in human physiology and behavior. The polymorphism, which is located 1.2 kb upstream of the MAOA coding sequences, consists of a 30-bp repeated sequence present in 3, 3.5, 4, or 5 copies. The polymorphism is in linkage disequilibrium with other MAOA and MAOB gene markers and displays significant variations in allele frequencies across ethnic groups. The polymorphism has been shown to affect the transcriptional activity of the MAOA gene promoter by gene fusion and transfection experiments involving three different cell types. Alleles with 3.5 or 4 copies of the repeat sequence are transcribed 2-10 times more efficiently than those with 3 or 5 copies of the repeat, suggesting an optimal length for the regulatory region. This promoter region polymorphism may be useful as both a functional and an anonymous genetic marker for MAOA.

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页码：273 / 279

页数：7

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