Craddock N, Brockington I, Mant R, Parfitt E, McGuffin P, Owen M
University of Birmingham, Queen Elizabeth Psychiatric Hospital.
Br J Psychiatry. 1994 Mar;164(3):359-64. doi: 10.1192/bjp.164.3.359.
Most clinical and genetic evidence suggests that puerperal psychosis is closely related to bipolar affective disorder. During a linkage study of bipolar disorder we ascertained a British family in which puerperal psychosis was associated with consanguinity in three sisters. All three subjects had lifetime RDC diagnoses of bipolar I or manic disorder. An inbred brother also had bipolar I disorder. The only female member of the sibship to escape puerperal psychosis was outbred. These findings are consistent with several genetic models for bipolar disorder in this family. The most interesting possibility is a single major susceptibility locus of recessive effect. Under this assumption, the family could be used for homozygosity mapping to help localise the putative recessive locus. If other inbred families can be found in which the same putative recessive locus is operating, the power to localise the gene by homozygosity mapping would be greatly increased.
大多数临床和遗传学证据表明,产褥期精神病与双相情感障碍密切相关。在一项双相情感障碍的连锁研究中,我们确定了一个英国家庭,其中产褥期精神病与三姐妹的近亲结婚有关。所有三名受试者终生的RDC诊断均为双相I型或躁狂症。一名近亲结婚的兄弟也患有双相I型障碍。该同胞关系中唯一未患产褥期精神病的女性成员是非近亲结婚。这些发现与该家庭双相情感障碍的几种遗传模型一致。最有趣的可能性是一个具有隐性效应的单一主要易感基因座。在这一假设下,该家庭可用于纯合性定位,以帮助定位假定的隐性基因座。如果能找到其他存在相同假定隐性基因座起作用的近亲结婚家庭,通过纯合性定位来定位该基因的能力将大大提高。