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一项针对与精神疾病共分离的平衡易位t(1:11)附近两个多态性标记的等位基因关联研究。

An allelic association study of two polymorphic markers in close proximity to a balanced translocation t(1:11) that co-segregates with mental illness.

作者信息

Wilson-Annan J C, Blackwood D H, Muir W, Millar J K, Porteous D J

机构信息

MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.

出版信息

Psychiatr Genet. 1997 Winter;7(4):171-4.

PMID:9460802
Abstract

We report a case control association study using polymorphic markers D1S1621 and D11S931 in unrelated individuals with schizophrenia, unipolar depression and a matched control group. The two polymorphic markers were identified during the positional cloning of the translocation breakpoint t(1:11)(q43:q14.3) that cosegregates with schizophrenia and affective disorders. These markers provided an opportunity to investigate linkage disequilibrium with a postulated schizophrenia susceptibility gene close to the translocation breakpoint in random populations of schizophrenia and unipolar depression individuals compared with a normal control population. No significant differences between allele frequencies for either of the markers in the affected populations were observed in comparison with the control group, which provides evidence against a nearby gene of major effect in the populations studied.

摘要

我们报告了一项病例对照关联研究,该研究使用多态性标记D1S1621和D11S931,对患有精神分裂症、单相抑郁症的无血缘关系个体以及一个匹配的对照组进行研究。这两个多态性标记是在与精神分裂症和情感障碍共分离的易位断点t(1:11)(q43:q14.3)的定位克隆过程中鉴定出来的。与正常对照人群相比,这些标记为研究精神分裂症和单相抑郁症随机人群中与假定的靠近易位断点的精神分裂症易感基因的连锁不平衡提供了机会。与对照组相比,在受影响人群中未观察到任何一个标记的等位基因频率有显著差异,这为所研究人群中不存在附近的主要效应基因提供了证据。

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