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普拉德-威利综合征/安吉尔曼综合征关键缺失区域与小鼠近端7号染色体之间的同线关系。

The syntenic relationship between the critical deletion region for the Prader-Willi/Angelman syndromes and proximal mouse chromosome 7.

作者信息

Chaillet J R, Knoll J H, Horsthemke B, Lalande M

机构信息

Department of Genetics, Harvard Medical School, Boston, Massachusetts.

出版信息

Genomics. 1991 Nov;11(3):773-6. doi: 10.1016/0888-7543(91)90090-2.

Abstract

The deleted region of the proximal long arm of human chromosome 15, common to a large group of patients with the Prader-Willi and Angelman syndromes, has recently been defined. We have mapped to the mouse genome segments homologous to human probes found within and flanking this deletional region. These probes define a region of conserved synteny on proximal chromosome 7 of the mouse. Because the Prader-Willi and Angelman syndromes are postulated to result from genomic imprinting within the common deletion, these probes may define a genomically imprinted region on mouse chromosome 7.

摘要

人类15号染色体近端长臂上的缺失区域,是一大群普拉德-威利综合征和安吉尔曼综合征患者所共有的,最近已被确定。我们已将与在该缺失区域内及侧翼发现的人类探针同源的片段定位到小鼠基因组。这些探针确定了小鼠近端7号染色体上一个保守的同线区域。由于普拉德-威利综合征和安吉尔曼综合征被推测是由共同缺失区域内的基因组印记导致的,这些探针可能确定了小鼠7号染色体上一个基因组印记区域。

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