CLONING OF CANDIDATE GENES FROM HUMAN 11P112-P2 REGION

本次调查将包括建设物理和删除 人类染色体区域11p11.p12的图谱。重叠的YACS和 将通过绘制一张物理地图来确定宇宙。 缺失图谱将允许定义染色体的最小区域， 多发性外生骨疣患者和可能有顶骨的患者的损失 孔和/或智力迟钝。通过以下方式识别的Cosmos 物理作图工作将用于进行外显子捕获， 鉴定可能涉及相邻基因候选基因 包括多发性外生骨疣的缺失综合征。所有候选基因 将分析其在多发性外生骨疣中的潜在作用。也是 这项工作可能会导致基因的识别， 参与其他相关但不相关的特征，如顶骨 或者智力迟钝

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.