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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。

Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32.

作者信息

Gregg R G, Couch F, Hogan K, Powers P A

机构信息

Department of Anesthesiology, University of Wisconsin, Madison 53705.

出版信息

Genomics. 1993 Jan;15(1):107-12. doi: 10.1006/geno.1993.1017.

DOI:10.1006/geno.1993.1017
PMID:7916735
Abstract

A human clone corresponding to the gene encoding the alpha 1 subunit of the skeletal muscle dihydropyridine-sensitive calcium channel (CACNL1A3) has been isolated and partially sequenced. Oligonucleotides based on this sequence were used in a polymerase chain reaction to amplify specifically the human gene in human-rodent somatic cell hybrids, allowing the assignment of CACNL1A3 to chromosome 1. A polymorphic dinucleotide repeat also was identified in the human clone and using PCR was typed on a subset of the CEPH families. Multipoint linkage analysis places the CACNL1A3 gene between D1S52 and D1S70, on chromosome 1q31-q32.

摘要

一个与编码骨骼肌二氢吡啶敏感钙通道(CACNL1A3)α1亚基的基因相对应的人类克隆已被分离并进行了部分测序。基于该序列的寡核苷酸被用于聚合酶链反应,以在人-啮齿动物体细胞杂种中特异性扩增人类基因,从而将CACNL1A3定位于1号染色体。在人类克隆中还鉴定出一个多态性二核苷酸重复序列,并利用聚合酶链反应在CEPH家族的一个子集中进行了分型。多点连锁分析将CACNL1A3基因定位在1号染色体1q31-q32上的D1S52和D1S70之间。

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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。
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引用本文的文献

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Mamm Genome. 1996 Jan;7(1):13-5. doi: 10.1007/s003359900004.
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Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis.
一个患有低钾性周期性麻痹的荷兰家族中,二氢吡啶受体α1亚基(CACLN1A3)基因发生突变。
J Med Genet. 1995 Jan;32(1):44-7. doi: 10.1136/jmg.32.1.44.
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Am J Hum Genet. 1995 Mar;56(3):684-91.
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