McGuffin P, Festenstein H, Murray R
Psychol Med. 1983 Feb;13(1):31-43. doi: 10.1017/s0033291700050042.
HLA antigens and 19 other genetic marker systems were studied in 12 families containing 2 or more members diagnosed as schizophrenic. In contrast with previous reports we could exclude linkage between the disorder and HLA, and we found no evidence of linkage with Gm or Gc. The disagreement between our results and those of a previous study, which suggested linkage between HLA and schizophrenia, could not be explained on the basis of genetic heterogeneity within the disorder. The problems of performing a linkage study in the face of diagnostic uncertainty and an unknown mode of inheritance of the main trait are discussed, and the measures taken in attempts to overcome these difficulties are described. Despite present drawbacks, genetic marker studies hold future promise as a means of detecting major gene effects in schizophrenia and other familial psychiatric disorders.
在12个家庭中对HLA抗原及其他19个遗传标记系统进行了研究,这些家庭中至少有两名成员被诊断为精神分裂症。与之前的报告不同,我们可以排除该疾病与HLA之间的连锁关系,并且未发现与Gm或Gc存在连锁的证据。我们的结果与之前一项表明HLA与精神分裂症存在连锁关系的研究结果不一致,这种不一致无法基于该疾病内的遗传异质性来解释。文中讨论了在面对诊断不确定性和主要性状未知遗传模式的情况下进行连锁研究的问题,并描述了为克服这些困难所采取的措施。尽管目前存在缺陷,但遗传标记研究有望成为检测精神分裂症和其他家族性精神疾病中主要基因效应的手段。