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
Clinical Neurogenetics Branch, National Institute of Mental Health, National Institute of Health, Bethesda, MD, USA.
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。