BIPOLAR DISORDERS GENETICS: AN AFFECTED SIB PAIR FAMILY

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。一旦确定了情感障碍和精神分裂症的遗传因素，预计在治疗、诊断和可能的预防方面将会有所改进。双相情感障碍多重家族首次基因组扫描的完成为13q32、1q32和18p11.2的易感区域提供了证据，这些发现最近被发表。有趣的是，这些区域与含有精神分裂症易感位点的染色体区域重叠。这些发现提高了精神分裂症和情感性障碍共享某些易感位点的可能性。由于连锁区域广泛，从许多定位候选基因（定位在易感区域的基因）中精确定位易感基因是一项艰巨的挑战。目前，NIMH- irp网站的主要功能是收集额外的受影响的双相同胞对，以扩大NIMH资助的双相遗传学联盟的总体样本。在过去的一年里，NIMH-IRP网站招募了64个BP家庭，完成了采访，并提交了22对受影响的兄弟姐妹的血液样本。其他家庭正处于完成协议要求的不同阶段。到目前为止，该联盟还没有进行额外的基因分析。

The long-term goal of the project is the identification of genes that contribute to 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 and schizophrenia are established. The completion of the first genome scan on multiplex families with bipolar affective disorder provided evidence for susceptibility regions on 13q32, 1q32 and 18p11.2 and these findings were published recently. Interestingly, these regions overlap with proposed chromosomal areas containing predisposing loci for schizophrenia. These findings raise the possibility that schizophrenia and affective disorders share some susceptibility loci. Because the linkage regions are broad, the challenge to pinpoint susceptibility genes from among many positional candidate genes (genes localized in susceptibility regions) is formidable. 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. In the past year, The NIMH-IRP site enrolled 64 BP families and completed interviews and submitted blood samples on 22 affected sibling pairs. Other families are in varying stages of completing the protocol requirements. No additional genetic analyses have been performed by the consortium as of this time.