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。预计，一旦确定情感障碍和精神分裂症的遗传因素，治疗、诊断以及可能的预防方面的改进将会发生变化。首次完成双相情感障碍多基因家系的基因组扫描，提供了13q32、1q32和18p11.2易感区域的证据，这些发现最近发表。有趣的是，这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。这些发现增加了精神分裂症和情感障碍共享某些易感基因的可能性。由于连锁区域很广，从许多位置候选基因(位于易感区域的基因)中精确定位易感基因的挑战是巨大的。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。在过去的一年里，NIMH-IRP网站招募了BP家庭，并完成了对22对受影响的兄弟姐妹的面谈和提交血样。其他家庭正处于完成协议要求的不同阶段。到目前为止，该财团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.