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目的明确 SCN4A 基因 V781I 突变是否为我国原发性低钾型周期性麻痹的相关突变。方法利用 PCR-直接测序技术和酶切技术对1个低钾型周期性麻痹家系(3例患者和14名健康亲属)、71例散发性低钾型周期性麻痹患者以及100名健康人进行了 SCN4A 基因 V781I 突变的筛查。结果低钾型周期性麻痹家系中所有患者均存在此突变,且有4名健康亲属携带此突变(1名男性,3名女性)。71例散发性低钾型周期性麻痹患者中有7例存在此突变,100名健康人中也有7例存在此突变,该两组间 V781I 突变频率差异无统计学意义(X~2=0.452,P=0.502)。结论 SCN4A 基因V781I 突变在低钾型周期性麻痹患者与健康人中的突变频率差异无统计学意义,此突变可能是正常基因多态性。
Objective To determine whether the mutation of V781I of SCN4A gene is a related mutation of primary hypokalemic periodic paralysis in China. Methods One hypokalemic periodical paralysis pedigree (3 patients and 14 healthy relatives), 71 patients with sporadic hypokalemic periodic paralysis and 100 healthy individuals were studied by PCR-direct sequencing and enzyme digestion SCN4A gene V781I mutation screening. Results This mutation was present in all patients with hypokalemic periodic paralysis pedigrees and 4 healthy relatives carried this mutation (1 males, 3 females). Seven of 71 patients with sporadic hypokalemic periodic paralysis had this mutation and 7 of 100 healthy individuals had this mutation. There was no significant difference in the frequency of V781I mutation between the two groups (X 2 = 0.452, P = 0.502). Conclusion The frequency of mutation of SCN4A gene V781I mutation in patients with hypokalemic periodic paralysis and healthy people has no statistical significance. This mutation may be a normal gene polymorphism.