Finckh U, Giraldo-Velasquez M, Pelz J, Otto G, Sander T, Schmidt L G, Rommelspacher H, Rolfs A
AG Molekulare Neurobiologie, Institut für Neuropsychopharmakologie, Universitätsklinikum Benjamin Franklin, Freie Universität Berlin, Germany.
Gene. 1996 Nov 14;179(2):251-5. doi: 10.1016/s0378-1119(96)00369-1.
The human dopamine D2 receptor gene (DRD2) is considered a candidate gene for neuro-psychiatric diseases. We typed three new DNA sequence variants in DRD2 intron 4, intron 6 and exon 8, in combination with the known TaqI A restriction fragment length polymorphism (RFLP) and exon 7 311Ser/Cys in 106 unrelated psychiatrically healthy Caucasians. Based on the genotypic data we delineated 10 distinct DRD2 haplotypes and their genetic relationship. Our data provide evidence that the Taq A1 allele and the 311Cys variant are components of different groups of haplotypes though both variants have been speculated to be associated with alcoholism or schizophrenia in recent studies. Therefore we conclude that the prior knowledge of the frequencies and genetic relationships of DRD2 haplotypes will lead to the selection of more suitable intragenic markers for future association studies.
人类多巴胺D2受体基因（DRD2）被认为是神经精神疾病的候选基因。我们对106名无亲缘关系的精神健康高加索人，检测了DRD2基因内含子4、内含子6和外显子8中的三个新的DNA序列变异，同时检测了已知的TaqI A限制性片段长度多态性（RFLP）和外显子7的311Ser/Cys。基于基因型数据，我们确定了10种不同的DRD2单倍型及其遗传关系。我们的数据提供了证据，尽管在最近的研究中推测Taq A1等位基因和311Cys变异都与酒精中毒或精神分裂症有关，但它们是不同单倍型组的组成部分。因此，我们得出结论，DRD2单倍型频率和遗传关系的先验知识将有助于为未来的关联研究选择更合适的基因内标记。
