GLYCOLYTIC & PEROXISOMAL GENES ON CHROMOSOME 11 AND 12

本申请描述了对11号染色体区域的拟议研究， 远端11p12-近端11p14，其全部或部分特征是 WAGR综合征缺失(肾母细胞瘤、无虹膜、泌尿生殖系统 异常和精神发育迟缓)。近乎完整的长距离连接 11p13-近端11p14的限制图，至少包含9.8 用脉冲场凝胶电泳法已经开发出DNA的百万碱基 和24个新的WAGR缺失区DNA探针，以及3个 参考基因座(过氧化氢酶，卵泡刺激素的β亚基 和乙肝病毒整合站点)。拥有完整的远距离 以WAGR缺失区的限制图为框架， 多个WAGR和AGR缺失的染色体和分子环境 将分析断点以确定体系结构的顺序 这类染色体重排特有的特征和 对它们的形成很重要；位置、环境和 Wilms基因座小缺失子区域内的关系 肿瘤(WT)、无虹膜(AN)与谷氨酸异常综合征 确定的；和第二个可能负责精神上的次区域 以迟缓为特征的。使用易位断点识别 与an和gu基因座相邻或位于其内的DNA探针，以及 在WT基因座的情况下，将寻找这些基因进行分子分析 它们的结构和功能。此外，超过185个DNA 11号染色体除WAGR缺失区外的其他区域的探针， 将与其他调查人员一起用于制定 染色体的连锁物理图谱和连锁图谱。

This application describes a proposed study of a region of chromosome 11, distal 11p12-proximal 11p14, all or part of which is characteristically deleted in the WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies and mental retardation). A nearly complete link-up long range restriction map of 11p13-proximal 11p14, encompassing at least 9.8 megabases of DNA, has been developed with pulse field gel electrophoresis and 24 new DNA probes for the WAGR deletion regions, together with 3 reference loci (catalase, beta subunit of follicle stimulating hormone and a hepatitis B virus integration site). With a complete long range restriction map of the WAGR deletion region as a framework, the chromosomal and molecular environments of multiple WAGR and AGR deletion breakpoints will be analyzed to identify sequences of architectural features specific to this class of chromosome rearrangements and important for their formation; the locations, environment and relationships within a small deletion subregion of the loci for Wilms tumor (WT), aniridia (AN) and the GU anomalies of the syndrome determined; and a second subregion likely responsible for mental retardation characterized. Using translocation breakpoints to identify DNA probes adjacent to or within the AN and GU loci, and deletions in the case of the WT locus, these genes will be sought for molecular analysis of their structure and function. In addition, the more than 185 DNA probes for regions of chromosome 11 other than the WAGR deletion region, will be used, together with other investigators, for development of an interlocking physical and linkage map of the chromosome.