CLONING OF CANDIDATE GENES FROM HUMAN 11P112-P2 REGION

这项调查将包括构建物理和删除 人类染色体区域图11p11.p12。重叠的YAC和 宇宙星将通过构建物理地图来识别。 该缺失图谱将允许定义最小的染色体区域 多发性骨质疏松症和可能患有顶骨的患者的脱失 孔洞和/或精神发育迟缓。宇宙星是通过 物理作图工作将用于执行外显子捕获和 识别可能与相邻基因相关的候选基因 包括多发性骨软骨瘤的缺失综合征。所有候选基因 将被分析为在多个外生骨病变中的潜在作用。它也是 这项工作可能会导致基因的识别 与其他相关但不相关的特征有关，如顶叶 孔洞或精神发育迟缓。

This investigation will include the construction of physical and deletion maps of the human chromosomal region 11p11.p12. Overlapping YACS and cosmids will be identified through the construction of a physical map. The deletion map will allow definition of a minimal region of chromosomal loss in patients with multiple exostoses and possibly with parietal foramina and/or mental retardation. Cosmids identified through the physical mapping effort will be used to perform exon trapping and identify candidate genes potentially involved in a contiguous gene deletion syndrome that includes multiple exostoses. All candidate genes will be analyzed for a potential role in multiple exostoses. It is also possible that this work will result in the identification of genes involved in other associated, but unrelated, traits such as parietal foramina or mental retardation.