Hallmayer J, Kennedy J L, Wetterberg L, Sjögren B, Kidd K K, Cavalli-Sforza L L
Department of Genetics, Stanford University School of Medicine, CA 94605.
Arch Gen Psychiatry. 1992 Mar;49(3):216-9. doi: 10.1001/archpsyc.1992.01820030048006.
Family, twin, and adoption studies suggest that genetic factors play an important role in the etiology of schizophrenia. Detection of single gene(s) involved in a higher susceptibility to a hereditary disease is possible with linkage analysis. The effects of serotonin2-receptor antagonists on symptoms of schizophrenia suggest that a mutation in the gene coding for this receptor subtype might be involved in the pathophysiology of this disease. Recently a copy DNA encoding the serotonin 5-HT2 receptor has been isolated and with a human 5-HT2 receptor copy DNA probe the HTR2 locus has been mapped to chromosome 13. Using multipoint linkage analysis between schizophrenia and genetic markers spanning the region of the HTR2 locus, we were able to exclude linkage between this candidate gene and schizophrenia in a Swedish kindred. Given this result, we conclude that the serotonin 5-HT2 receptor gene itself is not a major susceptibility gene for schizophrenia in this family.
家族、双胞胎及收养研究表明，遗传因素在精神分裂症的病因学中起重要作用。通过连锁分析有可能检测出与遗传性疾病易感性增加相关的单个基因。5-羟色胺2受体拮抗剂对精神分裂症症状的作用表明，编码该受体亚型的基因突变可能参与了此病的病理生理学过程。最近，编码5-羟色胺5-HT2受体的互补DNA已被分离出来，并且利用人类5-HT2受体互补DNA探针，已将HTR2基因座定位于13号染色体上。通过对精神分裂症与跨越HTR2基因座区域的遗传标记进行多点连锁分析，我们得以在一个瑞典家族中排除该候选基因与精神分裂症之间的连锁关系。鉴于这一结果，我们得出结论，在这个家族中，5-羟色胺5-HT2受体基因本身并非精神分裂症的主要易感基因。
