汉族人热性惊厥与VLGR1基因的相关研究  

Association between febrile seizure and VLGR1 gene in Han nationality

作　　者：涂林修 廖丛 张晨美[2] 叶盛[2] 朱履昌[2] 

机构地区：[1]宁波市北仑区人民医院儿科,315806 [2]浙江大学医学院附属儿童医院重症医学科

出　　处：《浙江医学》2012年第22期1804-1805,1808,共3页Zhejiang Medical Journal

基　　金：宁波市医学科技计划项目（2009B08）

摘　　要：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。] 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 VLGRlgene mutation was found in febrile seizure of Han nationality. However, the VLGR1 gene is enormous, so it is necessary to analyse all exons and exon-intron boundaries gene mutation of VLGR1 to explore the relationship between febrile seizure and VLGR1 gene in Han nationality.

关 键 词：热性惊厥 VLGR1基因 MASS1基因 单核苷酸多态性位点 

分 类 号：R733.72[医药卫生—肿瘤]