Ohara K, Nakamura Y, Xie D W, Ishigaki T, Deng Z L, Tani K, Zhang H Y, Kondo N, Liu J C, Miyasato K, Ohara K
Department of Psychiatry, Hamamatsu University School of Medicine, Shizuoka, Japan.
Biol Psychiatry. 1996 Dec 15;40(12):1209-17. doi: 10.1016/0006-3223(95)00673-7.
The result of most association studies and linkage analyses have suggested a negative association between schizophrenia and D2-like (D2, D3, and D4) receptor polymorphisms. Although the polymorphisms of the D2-like receptor in themselves may not account for the etiology of schizophrenia, they can contribute to the severity of the symptoms. Thus, we studied the associations between the polymorphisms and their combinations, and the vulnerability of schizophrenics. Fragments of the D2-like receptor genes were amplified by means of the polymerase chain reaction, and the polymorphisms were identified by the restriction fragment length polymorphism and single-stranded conformation polymorphism methods. There were no statistically significant differences in the polymorphisms and their combinations between schizophrenics and controls. Schizophrenics with D4E1(A1/A2), which contains 2 and 1 tandem repeats of a 12-base-pair sequence in exon 1, had a lower total positive symptom score before medication than schizophrenics with D4E1(A1/A1). There was no association between the polymorphisms and negative symptoms.
大多数关联研究和连锁分析的结果表明,精神分裂症与D2样(D2、D3和D4)受体多态性之间存在负相关。尽管D2样受体的多态性本身可能无法解释精神分裂症的病因,但它们可能会导致症状的严重程度。因此,我们研究了多态性及其组合与精神分裂症患者易感性之间的关联。通过聚合酶链反应扩增D2样受体基因片段,并采用限制性片段长度多态性和单链构象多态性方法鉴定多态性。精神分裂症患者与对照组在多态性及其组合方面没有统计学上的显著差异。携带D4E1(A1/A2)的精神分裂症患者,其外显子1中含有12个碱基对序列的2个和1个串联重复,用药前的总阳性症状评分低于携带D4E1(A1/A1)的精神分裂症患者。多态性与阴性症状之间没有关联。