Smeraldi E, Petroccione A, Gasperini M, Macciardi F, Orsini A
J Affect Disord. 1984 Oct;7(2):99-107. doi: 10.1016/0165-0327(84)90028-4.
In the present study we tested the fit of the Single Major Locus (SML) hypothesis, using segregation analysis for single families of affective probands treated with lithium salts, with second degree relatives included. We tested the segregation pattern for every family with two different sets of parameters: one dominant for a group that did not relapse on lithium treatment and one recessive for a group that did. We calculated the likelihood ratios for each family. The results of this study partially confirm the importance of outcome on lithium treatment in susceptibility to affective disorders. However, application of segregation analysis suggested that there is genetic heterogeneity that cannot be completely detected when using only the simple pharmacological criterion of outcome on lithium.
在本研究中,我们对接受锂盐治疗的情感障碍先证者的单个家庭进行了分离分析,并纳入了二级亲属,以此检验单主基因座(SML)假说的适用性。我们用两组不同的参数检验了每个家庭的分离模式:一组为显性参数,用于未在锂盐治疗中复发的群体;另一组为隐性参数,用于复发的群体。我们计算了每个家庭的似然比。本研究结果部分证实了锂盐治疗结果在情感障碍易感性中的重要性。然而,分离分析的应用表明,仅使用锂盐治疗结果这一简单的药理学标准时,存在无法完全检测到的遗传异质性。