上海市崇明县热性惊厥与SCN1A基因热点多态性变异的相关性分析
发布时间：2018-10-08 07:58
【摘要】：目的·了解上海市崇明县儿童热性惊厥(FS)与电压门控钠离子通道α1亚型(SCNIA)基因外显子25、26及3'UTR区域之间的相关性。方法·提取96例FS患儿[包括32例全面性癫痫伴热性惊厥附加症(GEFS+)患儿]和53例健康对照组儿童的外周静脉血基因组DNA,进行SCNIA基因E25、E26及3'UTR区域PCR扩增及测序分析。结果·病例组和对照组SCNIA基因E25、E26均未见突变。3'UTR区域1例GEFS+患儿存在c.310-311delGT变异,2例FS患儿存在c.589TG变异,6例存在c.593TG变异;对照组均未发现变异。病例组和对照组已报道的单核苷酸多态性(SNP)c.1025TC发生频率分别为18.2%和24.5%,2组间差异无统计学意义。预测结果显示114种miRNA能与SCNIA基因3'UTR区结合。c.310-311delGT不位于miRNA与SCN1A基因3'UTR区的结合序列内,c.589TG变异、c.589TG变异均位于此序列中。结论·经检测SCNIA基因E25、E26均未见突变;3'UTR区域发现c.310-311de1GT、c.589TG和c.593TG变异;SNPc.1025TC与FS无明显关联。
[Abstract]:Objective to investigate the relationship between (FS) of febrile convulsion in children in Chongming County, Shanghai, and the gene exon 2526 and 3'UTR region of voltage-gated sodium channel 伪 1 subtype (SCNIA) gene. Methods the peripheral venous genomic DNA, was extracted from 96 children with FS [including 32 patients with (GEFS) associated with febrile seizures] and 53 healthy children. The SCNIA gene E25 E26 and 3'UTR region PCR were amplified and sequenced. Results there was no mutation of E25 / E26 of SCNIA gene in case group and control group. 1 case of GEFS had c.310-311delGT mutation and 2 cases of FS had c.589TG mutation, 6 cases of c.593TG mutation were found in control group, and no mutation was found in control group. The frequency of single nucleotide polymorphisms (SNP) c.1025TC) reported in the case group and control group was 18.2% and 24.5B, respectively. There was no significant difference between the two groups. The predicted results showed that miRNA could bind to the 3'UTR region of SCNIA gene. C.310-311delGT was not located in the binding sequence of miRNA and 3'UTR region of SCN1A gene. The mutation of c. 589TG / c. 589TG was located in this sequence. Conclusion there was no significant correlation between SCNIA gene E25ng E26 and FS. The results showed that there was no significant correlation between FS and C310-311de1GTC589TG and c.593TG mutation SNPc.1025TC.
【作者单位】： 上海交通大学医学院附属新华医院儿内科;
【分类号】：R720.597
，
本文编号：2256013
[Abstract]:Objective to investigate the relationship between (FS) of febrile convulsion in children in Chongming County, Shanghai, and the gene exon 2526 and 3'UTR region of voltage-gated sodium channel 伪 1 subtype (SCNIA) gene. Methods the peripheral venous genomic DNA, was extracted from 96 children with FS [including 32 patients with (GEFS) associated with febrile seizures] and 53 healthy children. The SCNIA gene E25 E26 and 3'UTR region PCR were amplified and sequenced. Results there was no mutation of E25 / E26 of SCNIA gene in case group and control group. 1 case of GEFS had c.310-311delGT mutation and 2 cases of FS had c.589TG mutation, 6 cases of c.593TG mutation were found in control group, and no mutation was found in control group. The frequency of single nucleotide polymorphisms (SNP) c.1025TC) reported in the case group and control group was 18.2% and 24.5B, respectively. There was no significant difference between the two groups. The predicted results showed that miRNA could bind to the 3'UTR region of SCNIA gene. C.310-311delGT was not located in the binding sequence of miRNA and 3'UTR region of SCN1A gene. The mutation of c. 589TG / c. 589TG was located in this sequence. Conclusion there was no significant correlation between SCNIA gene E25ng E26 and FS. The results showed that there was no significant correlation between FS and C310-311de1GTC589TG and c.593TG mutation SNPc.1025TC.
【作者单位】： 上海交通大学医学院附属新华医院儿内科;
【分类号】：R720.597
，
本文编号：2256013
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