Genetic linkage mapping for a susceptibility locus to bipolar illness: chromosomes 2, 3, 4, 7, 9, 10p, 11p, 22, and Xpter.
Genetic linkage mapping for a susceptibility locus to bipolar illness: chromosomes 2, 3, 4, 7, 9, 10p, 11p, 22, and Xpter.
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双相情感障碍易感位点的遗传连锁图谱：2、3、4、7、9、10p、11p、22 和 Xpter 染色体。
DOI：
10.1002/ajmg.1320540307
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发表时间：
1994
期刊：
影响因子：
--
通讯作者：
E. Gershon
中科院分区：
文献类型：
--
作者：
S. Detera;Wang;W. Berrettini;Lynn R. Goldin;D. Rollins;D. Muniec;Raji Grewal;J. Guroff;G. Turner;Diane Coffman;J. Barrick;Kate Mills;Jeffrey Murray;Susan J. Donohue;David C. Klein;Jason Sanders;J. Nurnberger;E. Gershon
我们正在对21个中等规模的家系进行基因分型，以寻找双相情感障碍（躁狂抑郁）疾病的易感基因。我们报告的连锁数据来自筛选标记位点的染色体2，3，4，7，9，10 p，11 p，22，和假常染色体区域在Xpter。为了分析连锁，两点标记疾病lod得分计算下的显性模型与85%或50%的最大的显性和隐性模型与85%的最大的显性，和两个情感状态模型。在显性高等位基因模型下，在检测的142个位点中，有134个位点在θ = 0.01处的累积LOD值小于-2，表明如果疾病是遗传同质的，则可以排除这些标记区域中的连锁。使用其他遗传模型也得到了类似的结果。在作图过程中，我们发现在D 7S 78位点θ = 0.01处，在显性、50%连锁模型下，总lod值大于+3。D 7S 78区域内其他标志物的lod评分未能支持初始结果，这意味着这是假阳性。用受影响家系成员法对COL 1A 2和D 7S 78的分析显示连锁无显著性，但对于PLANH 1，在加权函数f（p）= 1和f（p）= 1/sqrt（p）时，获得了0.036和0.047的边界P值。我们还检测到盐皮质激素受体（MLR）和钙调素II（CALMII）基因的新多态性。对这些基因进行了遗传定位，在情感状态模型2和显性高等位基因传播模式下，发现在θ = 0.01处的lod分数< -2。
We are conducting a genome search for a predisposing locus to bipolar (manic-depressive) illness by genotyping 21 moderate-sized pedigrees. We report linkage data derived from screening marker loci on chromosomes 2, 3, 4, 7, 9, 10p, 11p, 22, and the pseudoautosomal region at Xpter. To analyze for linkage, two-point marker to illness lod scores were calculated under a dominant model with either 85% or 50% maximum penetrance and a recessive model with 85% maximum penetrance, and two affection status models. Under the dominant high penetrance model the cumulative lod scores in the pedigree series were less than -2 at theta = 0.01 in 134 of 142 loci examined, indicating that if the disease is genetically homogeneous linkage could be excluded in these marker regions. Similar results were obtained using the other genetic models. Heterogeneity analysis was conducted when indicated, but no evidence for linkage was found. In the course of mapping we found a positive total lod score greater than +3 at the D7S78 locus at theta = 0.01 under a dominant, 50% penetrance model. The lod scores for additional markers within the D7S78 region failed to support the initial finding, implying that this was a spurious positive. Analysis with affected pedigree member method for COL1A2 and D7S78 showed no significance for linkage but for PLANH1, at the weighting functions f(p) = 1 and f(p) = 1/sqrt(p) borderline P values of 0.036 and 0.047 were obtained. We also detected new polymorphisms at the mineralocorticoid receptor (MLR) and calmodulin II (CALMII) genes. These genes were genetically mapped and under affection status model 2 and a dominant, high penetrance mode of transmission the lod scores of < -2 at theta = 0.01 were found.
影响因子：
9.8
作者：
D. Weeks;K. Lange
通讯作者：
D. Weeks;K. Lange
影响因子：
9.8
作者：
M. Pericak-Vance;J. Bebout;P. Gaskell;L. Yamaoka;W. Hung;M. Alberts;A. Walker;R. Bartlett;
通讯作者：
M. Pericak-Vance;J. Bebout;P. Gaskell;L. Yamaoka;W. Hung;M. Alberts;A. Walker;R. Bartlett;
人类 Stefin A 基因 (STF 1) 中的 PstI DNA 多态性。
影响因子：
14.9
作者：
Hsieh,WT;Barrick,JL;Berrettini,WH;Chan,MM;Fong,D
通讯作者：
Fong,D