Bipolar Disorder Genetics: An Affected Sib Pair Family S

该项目的长期目标是确定导致双相情感障碍总体遗传风险的基因，并确定这些基因的生物学功能。预计一旦确定了情感性精神障碍的遗传因素，治疗、诊断和可能的预防方面的改进将会发生变化。目前，NIMH-IRP站点的主要功能是收集更多受影响的双相同胞对，以扩大NIMH赠款资助的双相遗传财团可用的总体样本。NIMH-IRP站点现在已经登记并完全确定了总共77个碱基对兄弟姐妹及其家人(比联盟中的十个全国站点中的任何其他站点都多)。我们网站评估的先驱及其家庭成员总数为349人。已提交331份血液样本进行DNA分析。其他家庭正处于完成协议要求的不同阶段。过去一年的大部分采访和DNA收集工作都致力于先前进入这项研究的先证者的家庭。本研究组完成了对双相情感障碍多基因家族的首次基因组扫描，为13q32、1q32和18p11.2的易感区域提供了证据。最近发表了更多的研究结果。有趣的是，其中一些区域与所提出的包含精神分裂症易感基因的染色体区域重叠。这些结果提出了精神分裂症和情感障碍共享某些易感基因的可能性。确定候选基因(位于易感区域的基因)将需要使用开发中的基因技术。

The long-term goal of the project is the identification of genes that contribute to the overall genetic risk in bipolar disorder and the characterization of the biological function of these genes. It is anticipated that improvements in treatment, diagnosis and possibly prevention will evolve once genetic contributions to affective disorders are established. At present, the NIMH-IRP site is functioning primarily to collect additional affected bipolar sib pairs to enlarge the overall sample available to the NIMH grant-funded Bipolar Genetics consortium. The NIMH-IRP site has now enrolled and completely ascertained a total of 77 BP sibling pairs and their families (more than any other of the ten nationwide sites in the Consortium). The total number of probands and family members evaluated by our site is 349. 331 blood samples have been submitted for DNA analysis. Other families are in varying stages of completing the protocol requirements. Much of the interview and DNA collection work in the past year was devoted to the families of probands who entered this study previously. The completion of the first genome scan on multiplex families with bipolar affective disorder by our consortium provided evidence for susceptibility regions on 13q32, 1q32 and 18p11.2. Additional findings were published recently. Interestingly, some of these regions overlap with proposed chromosomal areas containing predisposing loci for schizophrenia. These results raise the possibility that schizophrenia and affective disorders share some susceptibility loci. Identifying candidate gene (genes localized in susceptibility regions) will require use of developing genetic technologies.