LOCALIZATION OF THE HUMAN DOPAMINE BETA-HYDROXYLASE (DBH) GENE TO CHROMOSOME-9Q34
LOCALIZATION OF THE HUMAN DOPAMINE BETA-HYDROXYLASE (DBH) GENE TO CHROMOSOME-9Q34
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DOI：
10.1159/000132584
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发表时间：
1988-01-01
期刊：
影响因子：
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通讯作者：
CRAIG, IW
中科院分区：
文献类型：
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作者：
CRAIG, SP;BUCKLE, VJ;CRAIG, IW
从嗜铬细胞瘤文库中分离出多巴胺β羟化酶（DBH）的人cDNA克隆。该探针与复制带染色体的原位杂交将该基因定位于染色体9q34。因此，该酶的结构基因与ABO血型基因座接近。这表明先前描述的血清DBH水平的活性变化可能反映DBH编码序列的结构或调节的改变。因此，生物化学和遗传学的证据表明，DBH的蝶呤依赖性的芳香族氨基酸羟基的神经递质通路的独立性。
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 closed 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 hydroxylates of the neurotransmitter pathways.