【摘要】 目的研究氯离子通道 CLC-2基因是否与中国云南地区基诺族及汉族特发性全面强直-阵挛性癫癎(IGTCS)相关。方法以14例云南西双版纳傣族自治州景洪市基诺乡基诺族 IGTCS患者及其16名未发病亲属、67例云南籍汉族 IGTCS 患者及57名云南籍汉族健康体检者为对照,对常染色体3q26上 CLCN2基因的内含子2及外显子5、19(内含子18)进行研究,采用 PCR 及直接基因测序技术,应用病例-对照研究法对 CLCN2基因与云南基诺族及汉族 IGTCS 进行相关性分析。结果CLCN2基因的内含子2及外显子5、19在病例组和对照组中均没有发现已报道的易患突变,但我们在对外显子19的序列测定过程中发现了其上游内含子18的146位上存在1个单核苷酸多态性位点:146T→C。该位点的3种基因型(TT、TC、CC)在汉族病例组(9、3、29例)和汉族对照组(22、9、26例)之间的分布差异有统计学意义(x~2=16.079,P<0.05);在基诺族组(基诺族病例组+基诺族亲属组,6、12、12例)与汉族对照组(22、9、26例)之间分布差异亦有统计学意义(x~2=7.027,P<0.05)。汉族病例组与汉族对照组间 TT 型与非 TT 型基因型(分别为9、32例和22、35例)、TC 型与非 TC 型基因型(分别为3、38例和9、48例)比较差异有统计学意义(x~2=10.694,OR=4.121,P<0.05;x~2=11.592,OR=0.238,P<0.05)。结论 CLCN2基因内含子18的多态性位点 146T→C可能是中国云南地区基诺族与汉族 IGTCS 患者的1个相关性位点,且在本组有限的样本数量研究中,此 SNP 位点在两个民族 IGTCS 患者之间的分布无民族差异。基因型 TF 为 IGTCS 的1个保护性因素,基因型 TC则增加了患者的易患性。更多还原

【Abstract】 Objective To investigate whether the vohage-gated chloride channel CLC-2 gene— CLCN2 is associated with idiopathic generalized tonie-clonic seizures(often called a grand mal seizure, GME)of Jinuo people and Han people from Yunnan province.Methods Three regions,including Intron 2, Exon 5 and Exon 19(Intron 18),of CLCN2 were selected to conduct sequence analysis.The case-control study design was used to detect association between gene polymorphism and idiopathic generalized tonic- clonic seizures of Jinuo people and Han people from Yunnan province.Results No previously reported susceptible mutations were found in Intron 2,Exon 5 and Exon 19 in Jinuo people and Han people from Yunnan province.However we found a single nucleotide polymorphism(SNP)at site 146 of Intron 18. Case-control study were carried out,using this SNP.Distribution of the 3 genotypes(TT,TC,CC)has a significant difference between the IGTCS patients of Han people and the normal controls of Han people(9, 3,29 cases and 22,9,26,respectively,x~2=16.079,P<0.05)Distribution of the 3 genotypes(TT,TC, CC)has a significant difference between the Jinuo people(the IGTCS patients and their relatives)and the normal controls of Han people(6,12,12 cases and 22,9,26 cases,x~2=7.027,P<0.05).Distribution of the Tr and non-TT gene type(9,32 cases and 22,35 cases),TC and non-TC gene type(3,38 cases and 9,48 cases)has a significant difference between the IGTCS patients of Han people and the normal control of Han people(x~2=10.694,P<0.05,OR=4.121;x~2=11.592,P<0.05,OR=0.238). Conclusions The data shows that the SNP at site 146 of Intron 18 of CLCN2 might be a potential susceptible polymorphism causing idiopathic generalized tonic-clonic seizures in Han people and Jinuo people from Yunnan province,and there is no significant difference between the 2 group.The TT gene type plays a protect role in the IGTCS patients,however,the gene type TC increases the risk of IGTCS.更多还原