Maier W, Minges J, Eckstein N, Brodski C, Albus M, Lerer B, Hallmayer J, Fimmers R, Ackenheil M, Ebstein R E, Borrmann M, Lichtermann D, Wildenauer D B
Department of Psychiatry, University of Mainz, Germany.
Schizophr Res. 1996 May;20(1-2):175-80. doi: 10.1016/0920-9964(95)00083-6.
This study explores the genetic relationship between schizophrenia and the dopamine transporter gene (DAT) by a variety of methods. In a sample of 48 families--each family containing at least one nuclear family with a pair of affected siblings--we performed linkage analysis using the maximum likelihood (LOD score) method as well as sibpair analysis (identity by descent). In addition, we investigated a sample of 108 nuclear families--index case affected with schizophrenia/chronic schizoaffective disorder--for association using the haplotype relative risk method. Linkage between schizophrenia and DAT using two- and three-point linkage analysis was excluded with all disease models employed. No evidence for association between haplotypes of the VNTR-probe of the DAT and schizophrenia has been detected. Thus, a contribution of the DAT gene to the genetic diathesis of schizophrenia is unlikely in the families studied.
本研究通过多种方法探讨了精神分裂症与多巴胺转运体基因（DAT）之间的遗传关系。在一个包含48个家庭的样本中——每个家庭至少有一个核心家庭，且有一对患病的兄弟姐妹——我们使用最大似然法（LOD评分）以及同胞对分析（同源性）进行连锁分析。此外，我们使用单倍型相对风险法对108个核心家庭的样本——患有精神分裂症/慢性分裂情感性障碍的索引病例——进行了关联研究。采用所有疾病模型，通过两点和三点连锁分析均排除了精神分裂症与DAT之间的连锁关系。未检测到DAT的VNTR探针单倍型与精神分裂症之间存在关联的证据。因此，在所研究的家庭中，DAT基因对精神分裂症遗传素质的影响不太可能。
