上海市崇明縣熱性驚厥與SCN1A基因熱點多態(tài)性變異的相關性分析
發(fā)布時間：2018-10-08 07:58
【摘要】：目的·了解上海市崇明縣兒童熱性驚厥(FS)與電壓門控鈉離子通道α1亞型(SCNIA)基因外顯子25、26及3'UTR區(qū)域之間的相關性。方法·提取96例FS患兒[包括32例全面性癲癇伴熱性驚厥附加癥(GEFS+)患兒]和53例健康對照組兒童的外周靜脈血基因組DNA,進行SCNIA基因E25、E26及3'UTR區(qū)域PCR擴增及測序分析。結(jié)果·病例組和對照組SCNIA基因E25、E26均未見突變。3'UTR區(qū)域1例GEFS+患兒存在c.310-311delGT變異,2例FS患兒存在c.589TG變異,6例存在c.593TG變異;對照組均未發(fā)現(xiàn)變異。病例組和對照組已報道的單核苷酸多態(tài)性(SNP)c.1025TC發(fā)生頻率分別為18.2%和24.5%,2組間差異無統(tǒng)計學意義。預測結(jié)果顯示114種miRNA能與SCNIA基因3'UTR區(qū)結(jié)合。c.310-311delGT不位于miRNA與SCN1A基因3'UTR區(qū)的結(jié)合序列內(nèi),c.589TG變異、c.589TG變異均位于此序列中。結(jié)論·經(jīng)檢測SCNIA基因E25、E26均未見突變;3'UTR區(qū)域發(fā)現(xiàn)c.310-311de1GT、c.589TG和c.593TG變異;SNPc.1025TC與FS無明顯關聯(lián)。
[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 偽 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.
【作者單位】： 上海交通大學醫(yī)學院附屬新華醫(yī)院兒內(nèi)科;
【分類號】：R720.597
，
本文編號：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 偽 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.
【作者單位】： 上海交通大學醫(yī)學院附屬新華醫(yī)院兒內(nèi)科;
【分類號】：R720.597
，
本文編號：2256013
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