【摘要】 目的探讨GABRA3基因rs12688628位点G/T多态性与中国南方汉族男性人群甲亢性低钾性周期性麻痹(Thyrotoxic Hypokalemic Periodic Paralysis,THPP)遗传易感的相关性。方法以来自中国南方汉族人群的35例THPP患者,35例Graves’病不伴低钾瘫痪(Graves’Disease without hypokalemic periodic paralysis,GD)患者、25例非甲亢性低钾周期性麻痹(hypokalemic periodic paralysis,HPP)患者及35例健康志愿者(healthy indiciduals,NC)为研究对象,均为男性,抽取外周静脉血提取DNA,巢式PCR扩增GABRA3基因,通过限制性内切酶消化和琼脂糖电泳显示GABRA3基因多态性。对所有研究对象进行TSH、FT4、FT3测定,THPP患者和HPP患者麻痹发作时测定血K+。结果 GABRA3基因3号内含子rs12688628位点G等位基因型THPP组高于其他3组(THPP 36%vsHPP组34%vs GD组3%vs正常对照组14%),与GD和正常组均有显著差异,但与HPP组间比较无明显差异。结论中国南方汉族人群GABRA3基因rs12688628位点G/T多态性与THPP发病相关,该基因可能是THPP的易感基因。更多还原

【Abstract】 Objective To investigate the gamma-aminobutyric acid receptor α3 subunit(GABRA3)gene intron 3-rs12688628 G/T polymorphisms and susceptibility to thyrotoxic hypokalemic periodic paralysis(THPP).Methods 35 THPP patients,35 patients with Graves’disease without hypokalemic periodic paralysis(GD),25 hypokalemic periodic paralysis(HPP)patients and 35 healthy indiciduals(NC)in Han population of South China were studied.These patients were all male.DNA was obtained from peripheral venous blood,GABRA3 gene was amplified by nested PCR.Then gene polymorphisms were genotyped by PCR-RFLP and analyzed by agarose gel electrophoresis.The level of TSH,FT4 and FT3 were detected in all patients,and the level of blood potassium were detected in THPP patients and HPP patients on Paralytic stroke.Results Allele G of rs12688128 in intron 3 of GABRA3 gene possessed the difference in allele frequency(36%in THPP case vs 34%in HPP vs 3%in GD vs 14%in normal controls).There was signi?cant difference among THPP,GD and normal controls,but no significant difference between THPP and HPP.Conclusion Allele G of GABRA3 gene at position rs12688128 might be related with THPP in Han population of South China,which suggresses GABRA3 be one of the genes susceptibility to THPP.更多还原