Arinami T, Itokawa M
Department of Medical Genetics, University of Tsukuba, Japan.
Nihon Shinkei Seishin Yakurigaku Zasshi. 1994 Jun;14(3):129-37.
The methods, such as Southern blot hybridization, PCR-direct sequencing and PCR-SSCP, to detect sequence variants in the human dopamine D2 receptor (DRD2) gene were described. To study the association of a missense variant of the DRD2 gene resulting in Ser311-->Cys, which was detected by PCR-direct sequencing in schizophrenics, the genotypes of controls and schizophrenics were determined by the methods of PCR-dot blot hybridization, PCR amplification of specific alleles and artificially introduced PCR-RFLP.
描述了诸如Southern印迹杂交、PCR直接测序和PCR-SSCP等用于检测人类多巴胺D2受体(DRD2)基因序列变异的方法。为了研究在精神分裂症患者中通过PCR直接测序检测到的导致Ser311→Cys的DRD2基因错义变异的关联性,通过PCR斑点印迹杂交、特定等位基因的PCR扩增和人工引入的PCR-RFLP方法确定了对照组和精神分裂症患者的基因型。