Khoo S K, Bradley M, Wong F K, Hedblad M A, Nordenskjöld M, Teh B T
Laboratory of Cancer Genetics, Van Andel Research Institute, Grand Rapids, MI 49503, USA.
Oncogene. 2001 Aug 23;20(37):5239-42. doi: 10.1038/sj.onc.1204703.
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant neoplasia syndrome characterized mainly by benign skin tumors, and to a lesser extent, renal tumors and spontaneous pneumothorax. To map the BHD locus, we performed a genome-wide linkage analysis using polymorphic microsatellite markers on a large Swedish BHD family. Evidence of linkage was identified on chromosome 17p12-q11.2, with a maximum LOD score of 3.58 for marker D17S1852. Further haplotype analysis defined a approximately 35 cM candidate interval between the two flanking markers, D17S1791 and D17S798. This information will facilitate the identification of the BHD gene, leading to the understanding of its underlying molecular etiology.
Birt-Hogg-Dubé综合征（BHD）是一种常染色体显性肿瘤综合征，主要特征为良性皮肤肿瘤，其次为肾肿瘤和自发性气胸。为了定位BHD基因座，我们利用多态性微卫星标记，对一个大型瑞典BHD家系进行了全基因组连锁分析。在17号染色体p12-q11.2区域发现了连锁证据，标记D17S1852的最大对数优势（LOD）得分为3.58。进一步的单倍型分析确定了两个侧翼标记D17S1791和D17S798之间约35厘摩的候选区间。这些信息将有助于识别BHD基因，进而了解其潜在的分子病因。
