目的通过对散发性低钾性周期性麻痹KCNJ12、KCNJ18基因测序分析,探讨基因突变的相关性。方法取我院住院的52例散发性低钾性周期性麻痹患者和10例健康对照者血样,应用PCR和测序技术,进行KCNJ12、KCNJ18基因编码区PCR、测序比对。结果通过对52例患者和10例健康对照者KCNJ12、KCNJ18基因扩增测序比对,均未发现明显异常。结论未发现散发性低钾性周期性麻痹患者KCNJ12、KCNJ18基因编码区序列存在突变。 OBJECTIVE: To investigate the relationship between gene mutation and KCNJ12 gene sequencing in sporadic hypokalemic periodic paralysis. Methods Blood samples were collected from 52 patients with sporadic hypokalemic periodic paralysis and 10 healthy controls in our hospital. PCR and sequencing were used to carry out PCR of KCNJ12 and KCNJ18 genes and sequencing. Results No obvious abnormalities were found by sequencing amplification and sequencing of KCNJ12 and KCNJ18 in 52 patients and 10 healthy controls. Conclusion No mutations were found in the coding region of KCNJ12 and KCNJ18 genes in patients with sporadic hypokalemic periodic paralysis.