Berrettini W H
The department of Psychiatry and the Center for Neurobiology and Behavior, University of Pennsylvania, USA.
Dialogues Clin Neurosci. 1999 Jun;1(1):12-21. doi: 10.31887/DCNS.1999.1.1/wberrettini.
Linkage studies have defined at least five bipolar (BP) disorder susceptibility loci that meet suggested guidelines for initial identification and subsequent confirmation. These loci, found on 18p11, 18q22, 21q21, 4p16, and Xq26, are targets for BP candidate gene investigations. Molecular dissection of expressed sequences for these regions is likely to yield specific BP susceptibility alleles in most cases, in all probability, these BP susceptibility alleles will be common in the general population, and, individually, will be neither necessary nor sufficient for manifestation syndrome. Additive or multiplicative oligogenic models involving several susceptibility loci appear most reasonable at present, it is hoped thai these BP susceptibility genes will increase understanding of many mysteries surrounding these disorders, including drug response, cycling patterns, age-of-onset, and modes of transmission.
连锁研究已经确定了至少五个双相情感障碍（BP）易感性基因座，这些基因座符合初步识别和后续确认的建议准则。这些位于18p11、18q22、21q21、4p16和Xq26上的基因座，是BP候选基因研究的目标。对这些区域表达序列的分子剖析在大多数情况下可能会产生特定的BP易感性等位基因，很有可能这些BP易感性等位基因在普通人群中很常见，而且单独来看，对于综合征的表现既不是必需的也不是充分的。目前，涉及多个易感性基因座的加性或乘性寡基因模型似乎最为合理，希望这些BP易感性基因将增进对围绕这些疾病的许多谜团的理解，包括药物反应、发作周期模式、发病年龄和传播方式。
