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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.

DOI:10.1159/000133583
PMID:8404045
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。

相似文献

1
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.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。
Cytogenet Cell Genet. 1993;64(3-4):227-30. doi: 10.1159/000133583.
2
Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility.人类骨骼肌L型电压依赖性钙通道β1亚基和γ亚基在17号染色体q上的基因定位以及作为恶性高热易感性候选基因的排除。
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Molecular characterization of the gene encoding the gamma subunit of the human skeletal muscle 1,4-dihydropyridine-sensitive Ca2+ channel (CACNLG), cDNA sequence, gene structure, and chromosomal location.人骨骼肌1,4 - 二氢吡啶敏感Ca2+通道（CACNLG）γ亚基编码基因的分子特征、cDNA序列、基因结构及染色体定位。
J Biol Chem. 1993 May 5;268(13):9275-9.
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Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect.将17号染色体上假定的MHS2基因座排除在恶性高热易感性（MHS）之外，并排除二氢吡啶受体钙通道的α1、β1和γ亚基作为分子缺陷的候选因素。
Hum Mol Genet. 1993 Jul;2(7):857-62. doi: 10.1093/hmg/2.7.857.
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Refined localization of the alpha 1-subunit of the skeletal muscle L-type voltage-dependent calcium channel (CACNL1A3) to human chromosome 1q32 by in situ hybridization.通过原位杂交将骨骼肌L型电压依赖性钙通道（CACNL1A3）的α1亚基精确定位于人类染色体1q32。
Genomics. 1994 Feb;19(3):561-3. doi: 10.1006/geno.1994.1106.
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Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B).人类电压门控性钠离子通道β1亚基基因（SCN1B）的基因组结构与染色体定位
Genomics. 1994 Oct;23(3):628-34. doi: 10.1006/geno.1994.1551.
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Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.L型电压依赖性钙通道α2/δ亚基编码基因定位于7号染色体长臂q区及恶性高热易感家系侧翼标记物的分离分析
Hum Mol Genet. 1994 Jun;3(6):969-75. doi: 10.1093/hmg/3.6.969.
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Repetitive exon 45/46-related sequences of human Ca2+ channel alpha1C subunit gene.
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The gene coding for the alpha 1 subunit of the skeletal dihydropyridine receptor (Cchl1a3 = mdg) maps to mouse chromosome 1 and human 1q32.编码骨骼肌二氢吡啶受体α1亚基的基因（Cchl1a3 = mdg）定位于小鼠1号染色体和人类1q32。
Mamm Genome. 1993 Sep;4(9):499-503. doi: 10.1007/BF00364784.
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Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32.将人骨骼肌二氢吡啶敏感性钙通道（CACNL1A3）α1亚基的基因定位于染色体1q31 - q32。
Genomics. 1993 Jan;15(1):107-12. doi: 10.1006/geno.1993.1017.

引用本文的文献

1
The voltage-gated calcium channel gamma subunits: a review of the literature.电压门控钙通道γ亚基：文献综述
J Bioenerg Biomembr. 2003 Dec;35(6):649-60. doi: 10.1023/b:jobb.0000008029.22650.c5.
2
Identification of three novel Ca(2+) channel gamma subunit genes reveals molecular diversification by tandem and chromosome duplication.三个新的钙离子通道γ亚基基因的鉴定揭示了通过串联和染色体复制实现的分子多样化。
Genome Res. 1999 Dec;9(12):1204-13. doi: 10.1101/gr.9.12.1204.