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第六届世界精神科遗传学大会5号染色体研讨会报告

Report of the Chromosome 5 Workshop of the Sixth World Congress on Psychiatric Genetics.

作者信息

Crowe R R, Vieland V

机构信息

Department of Psychiatry, University of Iowa College of Medicine, Iowa City 52242-1000, USA.

出版信息

Am J Med Genet. 1999 Jun 18;88(3):229-32.

Abstract

The Chromosome 5 Workshop heard new data on a schizophrenia susceptibility locus in the 5q23.3-q31.1 region. Sixty-two pedigrees from Finland gave a lod score of 1.36 at the CSF1R locus approximately 14 cM distal to IL9/D5S393, where positive results from three pedigree collections converged at the 1997 workshop. Though positive at CSF1R, the new data were only weakly positive at the IL9 (lod 0.46) and D5S393 (lod 0.07) loci themselves. The workshop also reviewed new evidence in the 5p14.1-p13.1 region, where a large pedigree of schizophrenia of Puerto Rican extraction has suggested a susceptibility locus with a maximum lod score at D5S111. Twenty-one new pedigrees multiplex for schizophrenia in African Americans gave positive lod scores at D5S111 and flanking loci. In bipolar illness five genetically related pedigrees from the Saguenay-Lac-St. Jean region of Quebec identified a region of interest at 5q31.3-q35.1. This region overlaps with the D5S423 locus and includes the D5S812 locus and the 5q34 region, all of which are consistent with linkage in at least one other study.

摘要

第5号染色体研讨会听取了有关5q23.3 - q31.1区域精神分裂症易感基因座的新数据。来自芬兰的62个家系在CSF1R基因座处获得了1.36的对数优势分数,该基因座位于IL9 / D5S393远端约14厘摩处,在1997年研讨会上,三个家系集合的阳性结果在此处汇聚。尽管CSF1R呈阳性,但新数据在IL9(对数优势0.46)和D5S393(对数优势0.07)基因座本身仅呈弱阳性。研讨会还审查了5p14.1 - p13.1区域的新证据,在该区域,一个有波多黎各血统的大型精神分裂症家系表明在D5S111处有一个易感基因座,其最大对数优势分数。21个非裔美国人精神分裂症多重新发病家系在D5S111及其侧翼基因座处获得了阳性对数优势分数。在双相情感障碍方面,来自魁北克萨格奈 - 拉克 - 圣让地区的五个有遗传关系的家系在5q31.3 - q35.1处确定了一个感兴趣的区域。该区域与D5S423基因座重叠,包括D5S812基因座和5q34区域,所有这些在至少一项其他研究中均与连锁一致。

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