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信息性增强的新型DNA标记显示,对5号染色体q11 - 13区域精神分裂症易感基因座的支持减弱,并排除了两个英国和冰岛新家族队列中的连锁关系。

New DNA markers with increased informativeness show diminished support for a chromosome 5q11-13 schizophrenia susceptibility locus and exclude linkage in two new cohorts of British and Icelandic families.

作者信息

Kalsi G, Mankoo B, Curtis D, Sherrington R, Melmer G, Brynjolfsson J, Sigmundsson T, Read T, Murphy P, Petursson H, Gurling H

机构信息

Windeyer Institute for Medical Research, Department of Psychiatry and Behavioural Sciences, University College London Medical School.

出版信息

Ann Hum Genet. 1999 May;63(Pt 3):235-47. doi: 10.1046/j.1469-1809.1999.6330235.x.

Abstract

Genetic linkage of schizophrenia to markers at 5q11.2-13.3 had been reported previously in five Icelandic and two British families, but attempts at replication in independent samples have been unsuccessful. We report here an update on the diagnoses and results of linkage analyses using newer highly polymorphic microsatellite markers at or near the loci D5S76 and D5S39 in the original sample of pedigrees and in two new family samples from Iceland and from Britain. The new results show a reduction in evidence for linkage in the original sample and evidence against linkage in the two new family samples. Although it is possible that a rare locus is present, perhaps in the region 5p14.1-13.1 rather than 5q11.2-13.3, it appears most likely that the original positive lod scores represent an exaggeration of the 'true' lod scores due to random effects and that the small lod scores we now obtain could have arisen by chance.

摘要

先前曾报道过,精神分裂症与位于5q11.2 - 13.3的标记存在遗传连锁关系,涉及五个冰岛家庭和两个英国家庭,但在独立样本中进行复制的尝试均未成功。我们在此报告,在原始家系样本以及来自冰岛和英国的两个新家庭样本中,使用位于基因座D5S76和D5S39或其附近的更新的高度多态性微卫星标记进行连锁分析的诊断结果和最新情况。新结果显示,原始样本中的连锁证据减少,而在两个新家庭样本中则出现了反对连锁的证据。虽然可能存在一个罕见的基因座,也许在5p14.1 - 13.1区域而非5q11.2 - 13.3区域,但看起来最有可能的是,最初的阳性对数优势分数是由于随机效应而夸大了“真实”的对数优势分数,而我们现在获得的小对数优势分数可能是偶然出现的。

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