Birt-Hogg-Dube syndrome:: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2
Birt-Hogg-Dube syndrome:: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2
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DOI：
10.1038/sj.onc.1204703
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发表时间：
2001-08-23
期刊：
影响因子：
8
通讯作者：
Teh, BT
中科院分区：
文献类型：
--
作者：
Khoo, SK;Bradley, M;Teh, BT
Birt-Hogg-Dube综合征（BHD）是一种常染色体显性遗传肿瘤综合征，主要表现为良性皮肤肿瘤，其次为肾肿瘤和自发性气胸。为了绘制BHD基因座，我们进行了全基因组的连锁分析，使用多态性微卫星标记的一个大的瑞典BHD家庭。在染色体17 p12-q11.2上鉴定了连锁的证据，标记D17 S1852的最大LOD评分为3.58。进一步的单倍型分析确定了两个侧翼标记D17 S1791和D17 S798之间的相似于35 cm的候选间隔。这些信息将有助于BHD基因的鉴定，从而了解其潜在的分子病因。
Birt-Hogg-Dube 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 similar to 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.