Zerbin-Rüdin E
Schweiz Arch Neurol Neurochir Psychiatr. 1979;125(2):287-99.
As the endogeneous psychoses do not show a Mendelian mode of inheritance, empirical risk figures have to be calculated. They are heterogeneous and nurture as well as nature have a share in the manifestation of illness. The genetic basis of the schizophrenias is demonstrated by twin and adoption studies. The concordance rate in monozygotic twins is four times the rate in dizygotic twins. Schizophrenia is to be found in the biological families of schizophrenic adoptees but not in the adoptive families. However, despite their genetic identity, monozygotic twins do not show 100% concordance but 60% only. Nongenetic factors must be considered. Obviously they are nonspecific and vary between individuals. The same principles apply to the affective psychoses. At present research is most interested in the problem of heterogeneity. Do pure depressive and manic-depressive disease form one genetic entity, or two different ones, or have they in common part of their genetic basis? Some remarks on genetic counselling are made.
由于内源性精神病不呈现孟德尔遗传模式,因此必须计算经验性风险数据。它们具有异质性,疾病的表现既有后天因素也有先天因素的作用。双胞胎和收养研究证明了精神分裂症的遗传基础。同卵双胞胎的一致性比率是异卵双胞胎的四倍。在被收养的精神分裂症患者的生物学亲属中可发现精神分裂症,而在收养家庭中则不会。然而,尽管同卵双胞胎具有相同的基因,但他们的一致性并非100%,而仅为60%。必须考虑非遗传因素。显然,这些因素是非特异性的,且因人而异。同样的原则也适用于情感性精神病。目前,研究对异质性问题最为关注。单纯抑郁症和躁狂抑郁症是属于一个遗传实体,还是两个不同的遗传实体,或者它们在部分遗传基础上有共同之处?文中还对遗传咨询作了一些说明。