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对449对患有多发性硬化症的同胞对进行10号染色体连锁分析的优化。

Refining the linkage analysis on chromosome 10 in 449 sib-pairs with multiple sclerosis.

作者信息

Akesson Eva, Coraddu Francesca, Marrosu Maria Giovanna, Massacesi Luca, Hensiek Anke, Harbo Hanne Flinstad, Oturai Annette, Trojano Maria, Momigliano-Richiardi Patricia, Cocco Eleonora, Murru Raffaele, Hillert Jan, Compston Alastair, Sawcer Stephen

机构信息

Neurology Unit, Addenbrooke's Hospital, University of Cambridge, Cambridge, UK.

出版信息

J Neuroimmunol. 2003 Oct;143(1-2):31-8. doi: 10.1016/j.jneuroim.2003.08.008.

Abstract

Genome-wide screens for linkage in multiplex families with multiple sclerosis (MS) from United Kingdom, Sardinia, Italy and the Nordic countries (Denmark, Finland, Norway and Sweden) have each shown suggestive or potential linkage on chromosome 10. The partially overlapping regions identified by these studies encompass around 60 cM of the chromosome. In order to explore this region further, we typed 13 microsatellite markers in the same 449 families originally studied in the individual screens. This additional genotyping increased the information extraction in the region from 52% to 79% and revealed increased support for linkage (MLS 2.5) peaking at 10p15.

摘要

对来自英国、撒丁岛、意大利以及北欧国家(丹麦、芬兰、挪威和瑞典)的多发性硬化症(MS)多重家系进行全基因组连锁筛查,每项研究均显示在10号染色体上存在提示性或潜在的连锁关系。这些研究确定的部分重叠区域覆盖了该染色体约60厘摩的范围。为了进一步探究该区域,我们在最初个体筛查中研究的相同449个家系中对13个微卫星标记进行了分型。这一额外的基因分型将该区域的信息提取率从52%提高到了79%,并显示对连锁关系(MLS 2.5)的支持增加,在10p15处达到峰值。

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