Gregg R G, Couch F, Hogan K, Powers P A
Department of Anesthesiology, University of Wisconsin, Madison 53705.
Genomics. 1993 Jan;15(1):107-12. doi: 10.1006/geno.1993.1017.
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.
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。