撒丁岛多发性硬化症家系的全基因组筛查

A genome screen for multiple sclerosis in Sardinian multiplex families.

作者信息

Coraddu F, Sawcer S, D'Alfonso S, Lai M, Hensiek A, Solla E, Broadley S, Mancosu C, Pugliatti M, Marrosu M G, Compston A

机构信息

University of Cambridge Neurology Unit, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 2QQ, UK.

出版信息

Eur J Hum Genet. 2001 Aug;9(8):621-6. doi: 10.1038/sj.ejhg.5200680.

DOI:10.1038/sj.ejhg.5200680

PMID:11528508

Abstract

The prevalence of multiple sclerosis in Sardinia is significantly higher than in neighbouring Mediterranean countries, suggesting that the isolated growth of the population has concentrated genetic factors which increase susceptibility to the disease. The distinct HLA association of multiple sclerosis in Sardinia supports this interpretation. We have performed a whole genome screen for linkage in 49 Sardinian multiplex families using 327 markers. Non parametric linkage analysis of these data reveal suggestive linkage in the region of Chr 1q31, Chr 10q23 and Chr 11p15.

摘要

撒丁岛多发性硬化症的患病率显著高于邻近的地中海国家，这表明该地区人口的隔离增长使增加疾病易感性的遗传因素得以集中。撒丁岛多发性硬化症与HLA的独特关联支持了这一解释。我们使用327个标记对49个撒丁岛多发性硬化症家系进行了全基因组连锁筛查。对这些数据进行的非参数连锁分析显示在1号染色体q31区域、10号染色体q23区域和11号染色体p15区域存在提示性连锁。