Tang Nelson L S, Chow C C, Ko Gary T C, Tai Morris H L, Kwok Rachel, Yao X Q, Cockram Clive S
Department of Chemical Pathology, Faculty of Medicine, The Chinese University of Hong Kong, Kong Kong.
Clin Endocrinol (Oxf). 2004 Jul;61(1):109-12. doi: 10.1111/j.1365-2265.2004.02079.x.
Mutation in KCNE3 gene (Isk-related family potassium voltage-gated channel member 3 gene) was recently associated with the aetiology of thyrotoxic periodic paralysis (TPP). We studied 79 Chinese TPP patients by DNA sequencing of the entire coding sequence of KCNE3 to determine if this gene is the cause of TPP in Chinese patients.
A case-control genetic association study was carried out to determine the role of mutation/polymorphism in KCNE3 gene in the pathogenesis of TPP. Genomic DNA was extracted from peripheral blood samples. DNA sequencing was performed to cover the coding region of the KCNE3 gene for the TPP subjects. Restriction fragment length polymorphism was used to genotype specific sequence variants. subjects Seventy-nine TPP patients (cases) and 111 male thyrotoxic patients without history of paralysis (controls) were identified from thyroid clinic and during acute admission in a teaching hospital.
No pathogenic mutation in KCNE3 was found in the TPP patients. The reported R83H mutation was also not found in the Chinese TPP patients. In addition, another silent polymorphism, 290T/C, was also not associated with TPP.
The results indicate that mutation in KCNE3 is not a cause of TPP in Chinese patients.
KCNE3基因（内向整流钾通道相关家族成员3基因）的突变最近被认为与甲状腺毒症性周期性瘫痪（TPP）的病因有关。我们通过对79名中国TPP患者的KCNE3基因整个编码序列进行DNA测序，以确定该基因是否是中国患者TPP的病因。
开展了一项病例对照基因关联研究，以确定KCNE3基因突变/多态性在TPP发病机制中的作用。从外周血样本中提取基因组DNA。对TPP受试者的KCNE3基因编码区进行DNA测序。使用限制性片段长度多态性对特定序列变异进行基因分型。研究对象从一家教学医院的甲状腺门诊和急性入院期间确定了79名TPP患者（病例组）和111名无瘫痪病史的男性甲状腺毒症患者（对照组）。
在TPP患者中未发现KCNE3基因的致病突变。中国TPP患者中也未发现报道的R83H突变。此外，另一个沉默多态性位点290T/C也与TPP无关。
结果表明，KCNE3基因突变不是中国患者TPP的病因。
