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中华临床医师杂志(电子版)

中华临床医师杂志(电子版) ›› 2019, Vol. 13 ›› Issue (01) : 60 -64. doi: 10.3877/cma.j.issn.1674-0785.2019.01.013

所属专题： 文献；

临床研究

散发性低钾性周期性麻痹患者KCNJ12和KCNJ18基因测序比对及KCNJ12基因mRNA表达分析
林菡1,†(), 余洁玲2, 谭傍弟3, 方浩威1, 官少兵1, 陈建军1, 梅志忠1   
  1. 1. 523945　东莞市厚街医院神经内科
    2. 523945　东莞市厚街医院检验科
    3. 523000　东莞市虎门中医院护理部
  • 收稿日期:2018-11-06 出版日期:2019-01-01
  • 通信作者: 林菡
  • 基金资助:
    广东省省级科技计划项目(2013B021800031); 东莞市社会科技发展（一般）项目(201750715023205)

Sequencing of KCNJ12 and KCNJ18 genes and analysis of KCNJ12 mRNA expression in patients with sporadic hypokalemic periodic paralysis

Han Lin1,†(), Jieling Yu2, Bangdi Tan3, Haowei Fang1, Shaobing Guan1, Jianjun Chen1, Zhizhong Mei1   

  1. 1. Department of Neurology, Dongguan Houjie Hospital, Dongguan 523945, China
    2. Clinical Laboratory, Dongguan Houjie Hospital, Dongguan 523945, China
    3. Department of Nursing, Dongguan Human Chinese Medicine Hospital, Dongguan 523000, China
  • Received:2018-11-06 Published:2019-01-01
  • Corresponding author: Han Lin
  • About author:
    Corresponding author: Lin Han, Email:
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林菡, 余洁玲, 谭傍弟, 方浩威, 官少兵, 陈建军, 梅志忠. 散发性低钾性周期性麻痹患者KCNJ12和KCNJ18基因测序比对及KCNJ12基因mRNA表达分析[J/OL]. 中华临床医师杂志(电子版), 2019, 13(01): 60-64.

Han Lin, Jieling Yu, Bangdi Tan, Haowei Fang, Shaobing Guan, Jianjun Chen, Zhizhong Mei. Sequencing of KCNJ12 and KCNJ18 genes and analysis of KCNJ12 mRNA expression in patients with sporadic hypokalemic periodic paralysis[J/OL]. Chinese Journal of Clinicians(Electronic Edition), 2019, 13(01): 60-64.

目的

通过对散发性低钾性周期性麻痹（SPP）患者KCNJ18和KCNJ12基因测序比对分析，并对KCNJ12基因mRNA进行实时荧光定量聚合酶链反应（PCR）分析，研究SPP的病因和发病机制。

方法

选取东莞市厚街医院2016年5月至2018年4月收治的SPP患者42例，并以20例健康志愿者作为对照组，均进行KCNJ18、KCNJ12基因DNA编码区Sanger法双向测序比对和KCNJ12基因mRNA实时荧光定量PCR分析。对SPP患者组和健康对照组KCNJ12基因mRNA起始拷贝数Ct值采用独立样本t检验进行比较。

结果

SPP患者KCNJ18、KCNJ12基因DNA编码区与健康人群比较无差异。KCNJ12基因mRNA实时荧光定量PCR分析显示，SPP患者组KCNJ12基因mRNA的起始拷贝数Ct值较健康对照组显著降低，差异具有统计学意义［（0.62±0.24）vs（1.11±0.15），t=2.65，P=0.02）］，表明SPP患者KCNJ12基因mRNA表达水平与健康对照组比较明显降低。

结论

SPP患者KCNJ18、KCNJ12基因编码区不存在基因突变，但KCNJ12基因mRNA表达显著低于健康人群，提示SPP可能由内向整流性钾离子通道基因表达异常所致，尚需进一步研究。

关键词: 散发性低钾性周期性麻痹, KCNJ12基因, 突变, 聚合酶链反应, mRNA
Objective

To study the etiology and pathogenesis of sporadic hypokalemic periodic paralysis (SPP) by sequencing the KCNJ12 and KCNJ18 genes and analyze KCNJ12 mRNA expression by real-time quantitative fluorescent PCR.

Methods

Forty-two patients with SPP treated at Dongguan Houjie Hospital from May 2016 to April 2018 were included, and 20 healthy volunteers were used as a control group. The coding regions of KCNJ18 and KCNJ12 genes were sequenced by Sanger method in all subjects, and real-time fluorescence quantitative PCR analysis of KCNJ12 mRNA was performed. The Ct values of the initial copy number of KCNJ12 mRNA between the SPP group and the control group were compared by the independent-samples t-test.

Results

There was no difference in the DNA coding regions of KCNJ12 and KCNJ18 genes between SPP patients and healthy people. Real-time fluorescence quantitative PCR analysis of the KCNJ12 gene showed that the Ct value of the initial copy number of KCNJ12 gene mRNA in SPP patients was significantly lower than that of the healthy control group [(0.62±0.24) vs (1.11±0.15), t=2.65, P=0.02], which indicated that the expression level of KCNJ12 mRNA in SPP patients was significantly lower than that in the control group.

Conclusion

There is no abnormal gene mutation in the coding regions of KCNJ18 and KCNJ12 genes in SPP patients, but the expression of KCNJ12 mRNA is significantly lower than that of healthy population, suggesting that SPP may be caused by abnormal expression of inward-rectifier potassium ion channel gene.

Key words: Sporadic hypokalaemic periodic paralysis, KCNJ12 gene, Mutation, Polymerase chain reaction, mRNA
图1 PCR产物测序峰图
表1 SPP患者与健康对照者KCNJ12基因mRNA起始拷贝数Ct值比较（±s）
组别 例数 Ct值
SPP组 42 0.62±0.24
健康对照组 20 1.11±0.15
t值 ? 2.65
P值 ? 0.02
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