Pauls D L, Bailey J N, Carter A S, Allen C R, Egeland J A
Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
Am J Med Genet. 1995 Aug 14;60(4):290-7. doi: 10.1002/ajmg.1320600406.
Specific genetic hypotheses about the mode of transmission of bipolar affective disorders were examined by performing complex segregation analyses of Old Order Amish families. The analyses were performed on 1) the total set of 42 families including 689 relatives, 2) a subset of 19 families consisting of those kindreds sharing common ancestors within three generations that contained 333 relatives, and 3) a subset of 23 more distantly related families with 356 relatives. When all 42 families were included in the analyses, the specific mode of transmission that could be distinguished was dependent upon the diagnostic scheme used in the analysis. An autosomal dominant mode of inheritance could be rejected when relatives with bipolar I, atypical bipolar, major depressive disorder, and hypomania were included as affected. When analyses included only the subset of families more closely related, an autosomal dominant inheritance model was found to be consistent with transmission of BP I disorder. It was not possible to distinguish between other transmission models with broader diagnostic schemes in this subset of families. Finally, results of analyses on the subset of more distantly related families suggest that there is a significant proportion of Old Order Amish families in which the genetic factors contributing to the expression of bipolar illness are either polygenic or oligogenic.
通过对旧秩序阿米什家庭进行复杂的分离分析，研究了关于双相情感障碍遗传模式的特定遗传假设。分析针对以下三组进行：1）总共42个家庭，包括689名亲属；2）19个家庭的子集，由三代内有共同祖先的亲属组成，包含333名亲属；3）另外23个关系较远的家庭的子集，有356名亲属。当将所有42个家庭纳入分析时，能够区分的特定遗传模式取决于分析中使用的诊断方案。当将患有双相I型、非典型双相、重度抑郁症和轻躁狂症的亲属视为患者时，常染色体显性遗传模式可被排除。当分析仅包括关系较近的家庭子集时，发现常染色体显性遗传模型与双相I型障碍的遗传模式一致。在这个家庭子集中，使用更广泛的诊断方案无法区分其他遗传模式。最后，对关系较远的家庭子集的分析结果表明，相当一部分旧秩序阿米什家庭中，导致双相情感障碍表现的遗传因素是多基因或寡基因的。
