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11号染色体上WAGR区域的缺失图谱。

A deletion map of the WAGR region on chromosome 11.

作者信息

Gessler M, Thomas G H, Couillin P, Junien C, McGillivray B C, Hayden M, Jaschek G, Bruns G A

机构信息

Genetics Division, Children's Hospital, Boston, MA 02115.

出版信息

Am J Hum Genet. 1989 Apr;44(4):486-95.

Abstract

The WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) region has been assigned to chromosome 11p13 on the basis of overlapping constitutional deletions found in affected individuals. We have utilized 31 DNA probes which map to the WAGR deletion region, together with six reference loci and 13 WAGR-related deletions, to subdivide this area into 16 intervals. Specific intervals have been correlated with phenotypic features, leading to the identification of individual subregions for the aniridia and Wilms tumor loci. Delineation, by specific probes, of multiple intervals above and below the critical region and of five intervals within the overlap area provides a framework map for molecular characterization of WAGR gene loci and of deletion boundary regions.

摘要

WAGR(威尔姆斯瘤、无虹膜、泌尿生殖系统异常和智力迟钝)区域基于在受影响个体中发现的重叠染色体缺失被定位到11号染色体短臂13区。我们使用了31个定位到WAGR缺失区域的DNA探针,以及6个参照基因座和13个与WAGR相关的缺失,将该区域细分为16个区间。特定区间已与表型特征相关联,从而确定了无虹膜和威尔姆斯瘤基因座的各个子区域。通过特定探针描绘关键区域上下的多个区间以及重叠区域内的5个区间,为WAGR基因座和缺失边界区域的分子特征提供了一个框架图谱。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e821/1715590/c7b09d2eb95b/ajhg00114-0056-a.jpg

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