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目的筛查低血钾性周期性麻痹家系的骨骼肌二氢吡啶受体敏感的钙离子通道α1亚基、骨骼肌电压门控钠离子通道α亚基基因和钾离子通道KCNE3基因突变。方法以NaI法提取患者和对照组新鲜外周抗凝血白细胞DNA,进行目的片段的PCR扩增。然后对PCR产物作SSCP分析,最后对部分小片段产物行克隆测序,较大片段产物直接测序。结果发现钙离子通道α1亚基11号外显子和26号外显子上共三个无义突变,其他位点均无突变。结论该家系HypoPP发病机制可能存在另外的基因突变,有待进一步研究。
Objective To screen skeletal muscle dihydropyridine receptor - sensitive alpha1 subunit of skeletal muscle, voltage - gated sodium channel alpha subunit of skeletal muscle and KCNE3 gene of potassium ion channel in hypokalemic periodic paralytic pedigree. Methods Fresh peripheral anticoagulant leukocyte DNA was extracted from patients and controls by NaI method, and PCR amplification of the target fragment was performed. Then the PCR products were analyzed by SSCP. Finally, some small fragments were cloned and sequenced, and the larger fragments were sequenced directly. The results showed that there were three nonsense mutations in exon 11 and exon 26 of α1 subunit of calcium channel, and no mutation in other sites. Conclusion There may be other gene mutations in the pathogenesis of HypoPP in this family, which needs further study.