对患病同胞对的分析表明，支持先前关于21号染色体上双相情感障碍易感性位点的证据。
Affected-sib-pair analyses reveal support of prior evidence for a susceptibility locus for bipolar disorder, on 21q.
作者信息
Detera-Wadleigh S D, Badner J A, Goldin L R, Berrettini W H, Sanders A R, Rollins D Y, Turner G, Moses T, Haerian H, Muniec D, Nurnberger J I, Gershon E S
机构信息
Clinical Neurogenetics Branch, National Institute of Mental Health, National Institute of Health, Bethesda, MD, USA.
出版信息
Am J Hum Genet. 1996 Jun;58(6):1279-85.
In 22 multiplex pedigrees screened for linkage to bipolar disorder, by use of 18 markers on chromosome 21q, single-locus affected-sib-pair (ASP) analysis detected a high proportion (57%-62%) of alleles shared identical by descent (IBD), with P values of .049-.0008 on nine marker loci. Multilocus ASP analyses revealed locus trios in the distal region between D21S270 and D21S171, with excess allele sharing (nominal P values <.01) under two affection-status models, ASM I (bipolars and schizoaffectives) and ASM II (ASM I plus recurrent unipolars). In addition, under ASM I, the proximal interval spanned by D21S1436 and D21S65 showed locus trios with excess allele sharing (nominal P values of .03-.0003). These findings support prior evidence that a susceptibility locus for bipolar disorder is on 21q.
在通过使用位于21号染色体长臂上的18个标记对22个多重家系进行双相情感障碍连锁筛查时，单基因座受累同胞对（ASP）分析检测到高比例（57%-62%）的等位基因通过血缘共享相同（IBD），在9个标记位点上P值为0.049-0.0008。多位点ASP分析揭示了在D21S270和D21S171之间的远端区域存在基因座三联体，在两种患病状态模型，即ASM I（双相情感障碍患者和分裂情感性障碍患者）和ASM II（ASM I加上复发性单相情感障碍患者）下存在等位基因过度共享（名义P值<0.01）。此外，在ASM I下，由D21S1436和D21S65跨越的近端区间显示出基因座三联体存在等位基因过度共享（名义P值为0.03-0.0003）。这些发现支持了先前的证据，即双相情感障碍的一个易感基因座位于21q上。
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