中国人热性惊厥与MASS1基因的分子生物学研究

Molecular biology analysis of MASS1 gene in Chinese febrile convulsion patients

目的:研究中国人热性惊厥患者MASS1单核苷酸多态性位点(SNP)与基因突变情况。方法:抽取44位热性惊厥患者外周血,提取DNA,设计MASS1基因全部35个编码外显子引物,经PCR扩增,采用Sanger双脱氧链终止法测序。结果:共发现3个单核苷酸多态性位点,其中1个为位于第13外显子尚未有文献报道的新单核苷酸多态性位点2625A>C,致使原来的密码子CGA变成CGC,均编码精氨酸。另有2个单核苷酸多态性位点与已有文献报道相符,分别为第29外显子6666G>A及第33外显子7798T>G单核苷酸多态性位点。未发现新的基因突变。结论:MASS1基因存在多个单核苷酸多态性位点,对进一步研究中国人热性惊厥分子遗传学机制具有理论积累意义。

Objective To investigate the types,distribution and frequency of the single nucleotide polymorphism（SNP） and exon mutation of MASS1 gene in Chinese febrile convulsion patients.Methods This study included 44 Chinese febrile convulsion patientsDNA extraction and PCR were carried out by standard methodsMutation detection was performed by direct sequencing of the exons.Results Three SNP were found,one of these being a novel SNP which located in 13 exons,2625ACNo novel exon mutation was found.Conclusion MASS1 gene has multiple SNP and may concern with febrile convulsion