GLYCOLYTIC & PEROXISOMAL GENES ON CHROMOSOME 11 AND 12

本申请描述了对11号染色体区域的建议研究， 远端11 p12-近端11 p14，全部或部分特征性地 在WAGR综合征（肾母细胞瘤，无虹膜，泌尿生殖系统 异常和智力迟钝）。 一个几乎完整的连接远程 11 p13-近端11 p14的限制性图谱，包含至少9.8 脉冲场凝胶电泳技术已经发展出了一种DNA分子量为1000万的 24个新的WAGR缺失区DNA探针，以及3个新的WAGR缺失区DNA探针， 参考位点（过氧化氢酶，促卵泡激素β亚基 和B型肝炎病毒整合位点）。 射程很远 以WAGR缺失区的限制性酶切图谱为框架， 多重WAGR和AGR缺失的染色体和分子环境 将分析断点，以确定结构的序列 这类染色体重排的特征， 重要的是他们的形成;地点，环境和 Wilms基因座的小缺失亚区内的关系 肿瘤（WT），无虹膜（AN）和GU异常的综合征 确定;和第二个亚区可能负责心理 延迟的特点。 使用易位断点来识别 DNA探针邻近AN和GU基因座或在AN和GU基因座内，以及在AN和GU基因座中的缺失。 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 用于除WAGR缺失区以外的11号染色体区域的探针， 将与其他研究人员一起用于开发 连锁物理和连锁图谱的染色体。

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.