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通过原位杂交将骨骼肌L型电压依赖性钙通道基因(CACNLG)的γ亚基定位于人类染色体带17q24,并鉴定该基因座处的一个多态性重复DNA序列。

Localization of the gamma-subunit of the skeletal muscle L-type voltage-dependent calcium channel gene (CACNLG) to human chromosome band 17q24 by in situ hybridization and identification of a polymorphic repetitive DNA sequence at the gene locus.

作者信息

Iles D E, Segers B, Weghuis D O, Suikerbuijk R, Wieringa B

机构信息

Department of Cell Biology and Histology, Faculty of Medical Sciences, Catholic University of Nijmegen, The Netherlands.

出版信息

Cytogenet Cell Genet. 1993;64(3-4):227-30. doi: 10.1159/000133583.

Abstract

The skeletal muscle dihydropyridine receptor consists of five subunits and fulfils an essential role in excitation-contraction coupling. A genomic clone for the human gamma subunit was used to map the gene (CACNLG) to chromosome band 17q24 by in situ hybridization. Contained within the gene is a 416-bp polymorphic repetitive DNA element that is potentially useful as a genetic marker.

摘要

骨骼肌二氢吡啶受体由五个亚基组成,在兴奋-收缩偶联中起重要作用。利用人类γ亚基的基因组克隆,通过原位杂交将该基因(CACNLG)定位于染色体17q24带。该基因包含一个416bp的多态性重复DNA元件,它有可能用作遗传标记。

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