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一个酵母人工染色体(YAC)和黏粒重叠群的特征分析,该重叠群包含与19号染色体强直性肌营养不良基因座紧密连锁的标记。

Characterization of a YAC and cosmid contig containing markers tightly linked to the myotonic dystrophy locus on chromosome 19.

作者信息

Buxton J, Shelbourne P, Davies J, Jones C, Perryman M B, Ashizawa T, Butler R, Brook D, Shaw D, de Jong P

机构信息

Department of Anatomy, Charing Cross and Westminster Medical School, London, United Kingdom.

出版信息

Genomics. 1992 Jul;13(3):526-31. doi: 10.1016/0888-7543(92)90120-h.

Abstract

Myotonic dystrophy (DM) is caused by a defect in an unknown gene that maps to 19q13.3, flanked by the tightly linked markers ERCC1 on the proximal side and D19S51 on the distal side. We report the isolation and characterization of overlapping YAC and cosmid clones around D19S51 for the construction of a physical map around this locus. The resulting contig contains the markers D19S51 and D19S62 (another new marker tightly linked to the DM locus) and the distal breakpoint of a radiation hybrid cell line used in the physical mapping of the DM region. We have compared the restriction maps of the YACs and cosmids with that of the genome to investigate the fidelity of these clones.

摘要

强直性肌营养不良(DM)由一个未知基因的缺陷引起,该基因定位于19q13.3,其近端侧翼为紧密连锁的标记ERCC1,远端侧翼为D19S51。我们报告了围绕D19S51的重叠酵母人工染色体(YAC)和黏粒克隆的分离及特征分析,以构建该位点周围的物理图谱。所得的重叠群包含标记D19S51和D19S62(另一个与DM位点紧密连锁的新标记)以及用于DM区域物理图谱构建的一个辐射杂种细胞系的远端断点。我们已将YAC和黏粒的限制酶切图谱与基因组的图谱进行比较,以研究这些克隆的保真度。

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Cloning of the essential myotonic dystrophy region and mapping of the putative defect.
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引用本文的文献

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Cells of Matter- Models for Myotonic Dystrophy.物质细胞——强直性肌营养不良模型
Front Neurol. 2018 May 23;9:361. doi: 10.3389/fneur.2018.00361. eCollection 2018.

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