Dopamine D4 receptor variant, D4GLYCINE194, in Africans, but not in Caucasians: no association with schizophrenia.
Dopamine D4 receptor variant, D4GLYCINE194, in Africans, but not in Caucasians: no association with schizophrenia.
复制标题
多巴胺 D4 受体变异体 D4GLYCINE194 在非洲人中存在，但在白种人中则不然：与精神分裂症无关。
DOI：
10.1002/ajmg.1320540419
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发表时间：
1994
期刊：
影响因子：
--
通讯作者：
Voruganti,P
中科院分区：
文献类型：
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作者：
Seeman,P;Ulpian,C;Chouinard,G;VanTol,HH;Dwosh,H;Lieberman,JA;Siminovitch,K;Liu,IS;Waye,J;Voruganti,P
因为抗精神病药物选择性地阻断多巴胺受体，并且由于多巴胺D4受体在死后精神分裂症大脑中升高了六倍，我们在对照和精神分裂症组织中寻找多巴胺D4受体基因组DNA序列编码区的可能异常。在296名对照个体和58名精神分裂症患者的基因组DNA中检测了该受体外显子3的前250个碱基的DNA序列。183名对照黑人中的23名（12.6%）和24名精神分裂症黑人中的3名（12.5%）显示T被G取代，预测在氨基酸位置194处缬氨酸被甘氨酸取代。12.5%的相同患病率表明该变异与精神分裂症无关。氨基酸替换发生在距离丝氨酸一个氨基酸的地方，这对多巴胺的附着至关重要。147名高加索人（113名对照; 34名精神分裂症患者）中没有一人显示这种称为D4甘氨酸194的变异。© 1994 Wiley利斯公司
Because antipsychotic drugs selectively block dopamine receptors and since dopamine D4 receptors are elevated sixfold in postmortem schizophrenia brain, we searched for possible abnormalities in the coding region of the genomic DNA sequence for the dopamine D4 receptor in control and schizophrenia tissues. The DNA sequence for the first 250 bases of exon 3 of this receptor was examined in the genomic DNA from 296 control individuals and 58 schizophrenics. Twenty‐three out of 183 control blacks (12.6%) and 3 out of 24 (12.5%) schizophrenic blacks revealed a replacement of T by G, predicting a substitution of valine by glycine at amino acid position 194. The identical prevalence of 12.5% indicates that the variant is not associated with schizophrenia. The amino acid replacement occurs one amino acid away from a serine amino acid which is critical for the attachment of dopamine. None of the 147 Caucasians (113 controls; 34 schizophrenics) revealed this variant, termed D4GLYCINE194. © 1994 Wiley‐Liss, Inc.