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首页> 外文期刊>Psychiatric genetics >Linkage analysis in bipolar pedigrees adds support for a susceptibility locus on 21q22.
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Linkage analysis in bipolar pedigrees adds support for a susceptibility locus on 21q22.

机译：双极谱系的连锁分析增加了对21q22易感性基因座的支持。

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摘要

Several studies provide suggestive evidence of a susceptibility locus for bipolar disorder at chromosome 21q22-23. In an attempt to replicate these findings, we have analyzed linkage to 11 polymorphic markers from this region in 18 Bulgarian pedigrees with affective disorder. Two-point linkage analysis under assumption of homogeneity and a dominant model with reduced penetrance produced modest positive values for some of the markers tested under a 'narrow' phenotype definition, including bipolar I and II, and schizoaffective disorder. The maximum two-point score (lod=1.76, theta;=0.00) was at marker D21S1919. Non-parametric linkage analysis under the same phenotype model, yielded positive NPLall values (P<0.05) over the region between markers D21S211 and D21S416, with a peak at D21S1252 (NPL Zall=2.32, P=0.0003). The multipoint lod score (GENEHUNTER) reached a suggestive value for linkage (lod=2.10) also at marker D21S1252. The results under a recessive model were completely negative. These data add tothe evidence for the existence of a susceptibility locus for bipolar affective disorder on chromosome 21q22.
机译：多项研究提供了在21q22-23号染色体上双相情感障碍易感性基因座的暗示证据。为了重复这些发现，我们分析了该地区18个保加利亚人家谱中的11种多态性标记的连锁关系。在同质性假设和显着性降低的显性模型下进行的两点连锁分析对于在“窄”表型定义下测试的某些标志物（包括双相性I和II，以及情感分裂性障碍）产生了适度的正值。最大两点得分（lod = 1.76，θ; = 0.00）在标记D21S1919处。在同一表型模型下的非参数连锁分析在标记D21S211和D21S416之间的区域产生正NPLall值（P <0.05），在D21S1252出现一个峰值（NPL Zall = 2.32，P = 0.0003）。在标记D21S1252处，多点lod得分（GENEHUNTER）也达到了暗示的连锁价值（lod = 2.10）。隐性模型下的结果完全是负面的。这些数据为存在于21q22号染色体上的双相情感障碍易感基因座提供了证据。

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