Kelsoe J R, Spence M A, Loetscher E, Foguet M, Sadovnick A D, Remick R A, Flodman P, Khristich J, Mroczkowski-Parker Z, Brown J L, Masser D, Ungerleider S, Rapaport M H, Wishart W L, Luebbert H
Department of Psychiatry, University of California at San Diego, La Jolla, CA 92093, USA,
Proc Natl Acad Sci U S A. 2001 Jan 16;98(2):585-90. doi: 10.1073/pnas.98.2.585. Epub 2001 Jan 9.
Bipolar disorder or manic depressive illness is a major psychiatric disorder that is characterized by fluctuation between two abnormal mood states. Mania is accompanied by symptoms of euphoria, irritability, or excitation, whereas depression is associated with low mood and decreased motivation and energy. The etiology is currently unknown; however, numerous family, twin, and adoption studies have argued for a substantial genetic contribution. We have conducted a genome survey of bipolar disorder using 443 microsatellite markers in a set of 20 families from the general North American population to identify possible susceptibility loci. A maximum logarithm of odds score of 3.8 was obtained at D22S278 on 22q. Positive scores were found spanning a region of nearly 32 centimorgans (cM) on 22q, with a possible secondary peak at D22S419. Six other chromosomal regions yielded suggestive evidence for linkage: 3p21, 3q27, 5p15, 10q, 13q31-q34, and 21q22. The regions on 22q, 13q, and 10q have been implicated in studies of schizophrenia, suggesting the possible presence of susceptibility genes common to both disorders.
双相情感障碍或躁郁症是一种主要的精神疾病，其特征是在两种异常情绪状态之间波动。躁狂伴有欣快、易怒或兴奋的症状，而抑郁则与情绪低落、动力和精力下降有关。目前病因尚不清楚；然而，大量的家族、双胞胎和收养研究表明遗传因素起着重要作用。我们使用443个微卫星标记对一组来自北美普通人群的20个家庭进行了双相情感障碍的全基因组调查，以确定可能的易感基因座。在22号染色体上的D22S278处获得了最大对数优势分数3.8。在22号染色体上发现阳性分数跨越了近32厘摩（cM）的区域，在D22S419处可能有一个次要峰值。其他六个染色体区域产生了连锁的提示性证据：3p21、3q27、5p15、10q、13q31 - q34和21q22。22号染色体、13号染色体和10号染色体上的区域在精神分裂症研究中已有涉及，这表明这两种疾病可能存在共同的易感基因。
