Wei J, Ramchand C N, Hemmings G P
Institute of Biological Psychiatry, Schizophrenia Association of Great Britain, Bangor, UK.
Psychiatr Genet. 1998 Spring;8(1):19-24. doi: 10.1097/00041444-199800810-00003.
Two parts of the dopamine beta-hydroxylase (DBH) gene, one a 7.5-kb single copy fragment (F1) spanning the 5'-flanking region to exon 3 and the second a 9.0-kb single copy fragment (F2) spanning exon 3 to exon 7, were amplified by a long PCR procedure in 161 unrelated patients with schizophrenia and 67 unrelated control subjects. The PCR products were completely digested with the restriction enzyme TaqI. These subjects were classified into genetic subgroups according to the TaqI restriction fragment length polymorphisms (RFLPs) for the human DBH gene, and the association of the TaqI RFLPs with biochemical alterations of the catecholamine pathway in schizophrenia was then examined. The frequencies of the two TaqI polymorphic sites did not show significant differences between the patients and control subjects, but the TaqI RFLPs were found to be associated with biochemical alterations of the catecholamine pathway in schizophrenia.
采用长链聚合酶链式反应（PCR）方法，对161例无亲缘关系的精神分裂症患者及67例无亲缘关系的对照者，扩增了多巴胺β-羟化酶（DBH）基因的两个片段，一个是跨越5′侧翼区至第3外显子的7.5kb单拷贝片段（F1），另一个是跨越第3外显子至第7外显子的9.0kb单拷贝片段（F2）。用限制性内切酶TaqI对PCR产物进行完全酶切。根据人类DBH基因的TaqI限制性片段长度多态性（RFLP）将这些研究对象分为遗传亚组，进而研究TaqI RFLP与精神分裂症儿茶酚胺途径生化改变之间的关联。患者与对照者之间两个TaqI多态性位点的频率无显著差异，但发现TaqI RFLP与精神分裂症儿茶酚胺途径的生化改变有关。
