King N, Bassett A S, Honer W G, Masellis M, Kennedy J L
Neurogenetics Section, Clarke Institute of Psychiatry, University of Toronto, Ontario, Canada.
Am J Med Genet. 1997 Sep 19;74(5):472-4.
A VNTR for the human dopamine transporter gene (DAT-1) has been localized to chromosome 5p15.3. Silverman et al. [1996] found evidence for genetic linkage of the D5S111 locus, located just centromeric to DAT-1, to schizophrenia and related disorders in a large Hispanic family. We evaluated five markers on 5p, including D5S111 and the DAT-1 VNTR, in five multiplex schizophrenic families, assuming autosomal dominant transmission (subjects assessed n = 122, DNAs available n = 96, individuals with schizophrenia and schizoaffective disorder n = 36, broader spectrum disorders n = 14). LOD scores were negative across all families for all markers tested, and overall LOD scores were strongly negative (<-2.0, theta = 0) across all five families for each of the markers typed. Thus, there is no evidence to support the linkage of markers in this region of chromosome 5 to schizophrenia in this sample of families.
人类多巴胺转运体基因（DAT - 1）的一个可变数目串联重复序列（VNTR）已定位到染色体5p15.3。西尔弗曼等人[1996]在一个大型西班牙裔家族中发现，位于DAT - 1着丝粒侧的D5S111位点与精神分裂症及相关疾病存在遗传连锁证据。我们在五个精神分裂症多发家系中评估了5p上的五个标记，包括D5S111和DAT - 1 VNTR，假设为常染色体显性遗传（评估对象n = 122，可获取DNA的n = 96，患有精神分裂症和分裂情感性障碍的个体n = 36，更广泛谱系障碍的n = 14）。所有测试家系中所有标记的对数优势比（LOD）分数均为阴性，并且在所有五个家系中，每个分型标记的总体LOD分数均为强阴性（<-2.0，θ = 0）。因此，在这个家系样本中，没有证据支持5号染色体该区域的标记与精神分裂症存在连锁关系。
