冰岛和英国精神分裂症多重家系中D5多巴胺受体基因（DRD5）的连锁研究。
Linkage study of the D5 dopamine receptor gene (DRD5) in multiplex Icelandic and English schizophrenia pedigrees.
作者信息
Kalsi G, Sherrington R, Mankoo B S, Brynjolfsson J, Sigmundsson T, Curtis D, Read T, Murphy P, Butler R, Petursson H, Gurling H M
机构信息
Department of Psychiatry, University College London Medical School, U.K.
出版信息
Am J Psychiatry. 1996 Jan;153(1):107-9. doi: 10.1176/ajp.153.1.107.
OBJECTIVE
The authors investigated the possibility that genetic variation or mutation of the dopamine D5 receptor gene might modify susceptibility to schizophrenia.
METHOD
Twenty-three Icelandic and English pedigrees containing multiple cases of schizophrenia were genotyped by using a highly informative microsatellite for the D5 dopamine receptor gene DRD5.
RESULTS
By means of three different affection models, negative lod scores were obtained under assumptions of autosomal dominant and recessive inheritance. There was no evidence for locus heterogeneity. Nonparametric extended relative pair analysis also produced negative results.
CONCLUSIONS
These data indicate that mutations of the D5 dopamine receptor gene are not a major cause of schizophrenia in these pedigrees. Because of the probable existence of locus heterogeneity, the D5 receptor gene may be of etiologic importance in other families with schizophrenia.
目的
作者研究了多巴胺D5受体基因的遗传变异或突变可能改变对精神分裂症易感性的可能性。
方法
使用针对D5多巴胺受体基因DRD5的高信息量微卫星对23个包含多例精神分裂症病例的冰岛和英国家系进行基因分型。
结果
通过三种不同的患病模型，在常染色体显性和隐性遗传假设下获得了负对数优势比分。没有证据表明存在基因座异质性。非参数扩展相对对分析也得出了阴性结果。
结论
这些数据表明，在这些家系中，D5多巴胺受体基因的突变不是精神分裂症的主要病因。由于可能存在基因座异质性，D5受体基因在其他精神分裂症家系中可能具有病因学重要性。
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