Fontaine B, Khurana T S, Hoffman E P, Bruns G A, Haines J L, Trofatter J A, Hanson M P, Rich J, McFarlane H, Yasek D M
Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Charlestown, MA 02129.
Science. 1990 Nov 16;250(4983):1000-2. doi: 10.1126/science.2173143.
Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disorder characterized by episodes of muscle weakness due to depolarization of the muscle cell membrane associated with elevated serum potassium. Electrophysiological studies have implicated the adult muscle sodium channel. Here, portions of the adult muscle sodium channel alpha-subunit gene were cloned and mapped near the human growth hormone locus (GH1) on chromosome 17. In a large pedigree displaying HYPP with myotonia, these two loci showed tight linkage to the genetic defect with no recombinants detected. Thus, it is likely that the sodium channel alpha-subunit gene contains the HYPP mutation.
高钾性周期性麻痹（HYPP）是一种常染色体显性疾病，其特征为因与血清钾升高相关的肌细胞膜去极化而导致的肌无力发作。电生理研究表明成人肌肉钠通道与此有关。在此，克隆了成人肌肉钠通道α亚基基因的部分片段，并将其定位在17号染色体上人类生长激素基因座（GH1）附近。在一个显示伴有肌强直的HYPP的大家系中，这两个基因座与遗传缺陷紧密连锁，未检测到重组体。因此，钠通道α亚基基因很可能包含HYPP突变。
