人类多巴胺β羟化酶（DBH）基因定位于9号染色体长臂34区。

Localization of the human dopamine beta hydroxylase (DBH) gene to chromosome 9q34.

作者信息

Craig S P, Buckle V J, Lamouroux A, Mallet J, Craig I W

机构信息

Department of Biochemistry, University of Oxford, UK.

出版信息

Cytogenet Cell Genet. 1988;48(1):48-50. doi: 10.1159/000132584.

DOI:10.1159/000132584

PMID:3180847

Abstract

A human cDNA clone for dopamine beta hydroxylase (DBH) has been isolated from a phaeochromocytoma library. In situ hybridization of this probe to replication-banded chromosomes has localized the gene to chromosome 9q34. The structural gene for the enzyme is therefore close to the ABO blood group locus. This suggests that the previously described activity variation in levels of serum DBH may reflect alterations in either the structure or regulation of the DBH coding sequences. Both biochemical and genetic evidence therefore indicate independence of DBH from the pterin-dependent aromatic amino acid hydroxylases of the neurotransmitter pathways.

摘要

一个用于多巴胺β羟化酶（DBH）的人类cDNA克隆已从嗜铬细胞瘤文库中分离出来。用该探针与复制带型染色体进行原位杂交，已将该基因定位到9号染色体长臂34区。因此，该酶的结构基因靠近ABO血型位点。这表明先前描述的血清DBH水平的活性变化可能反映了DBH编码序列的结构或调控改变。因此，生化和遗传学证据均表明DBH与神经递质途径中依赖蝶呤的芳香族氨基酸羟化酶相互独立。