CAJ | 학술논문

目的研究汉族热性惊厥患者 VLGR1基因单核苷酸多态性位点(SNP)与基因突变情况.方法随机抽取50例热性惊厥患儿及50例对照组儿童外周血,提取 DNA,设计 VLGR1基因第74个外显子引物,经 PCR 扩增,将测序结果与基因库中正常序列进行比对.结果未发现两组 SNP 及基因突变情况.结论未发现汉族热性惊厥患者 VLGR1基因突变情况,但由于VLGR1基因巨大,有必要对 VLGR1所有外显子及外显子~内含子交界区进行基因突变分析,以进一步探索其与汉族热性惊厥患者的关系.
목적연구한족열성량궐환자 VLGR1기인단핵감산다태성위점(SNP)여기인돌변정황.방법수궤추취50례열성량궐환인급50례대조조인동외주혈,제취 DNA,설계 VLGR1기인제74개외현자인물,경 PCR 확증,장측서결과여기인고중정상서렬진행비대.결과미발현량조 SNP 급기인돌변정황.결론미발현한족열성량궐환자 VLGR1기인돌변정황,단유우VLGR1기인거대,유필요대 VLGR1소유외현자급외현자~내함자교계구진행기인돌변분석,이진일보탐색기여한족열성량궐환자적관계.
[ ] Objective To investigate the single nucleotide polymorphism (SNP) locus and mutation of VLGR1 gene in febrile seizure of Han nationality. Methods The 74th exon of VLGR1 gene was amplified with PCR in peripheral blood samples from50 children with febrile seizure and a control cohort of 50 individuals, and direct DNA sequencing was performed to detect mutation. Results No single nucleotide polymorphism locus or mutation was found in the 74th exon of VLGR1 gene. Conclusion No VLGR1gene mutation was found in febrile seizure of Han nationality. However, the VLGR1 gene is enormous, so it is necessary to analyse al exons and exon-intron boundaries gene mutation of VLGR1 to explore the relationship between febrile seizure and VLGR1 gene in Han nationality.