【摘要】 目的 探究突触融合蛋白1A(STX1A基因)的4个单核苷酸多态性（SNP）与江西省汉族孤独症谱系障碍（ASD）儿童的相关性。方法 选取170例ASD儿童和200例正常儿童STX1A基因RS941298、RS4717806、RS2228607、RS875342位点，同时，综合分析ASD的临床症状。结果 两组儿童在STX1A基因的4个SNPs基因型频率上差异无统计学意义（P>0.05）。ASD儿童的STX1A基因4个SNPs基因型频率与疾病严重程度差异无统计学意义（P>0.05）。轻度ASD儿童的4个SNPs基因型频率与疾病严重程度之间差异无统计学意义（P>0.05）。结论 STX1A基因的4个位点基因型频率与儿童ASD无明显相关性，这为探讨ASD遗传机制提供了重要参考，有助于深入了解神经发育性疾病的发病机制。更多还原

【Abstract】 Objective The study aimed to explore the correlation between four single nucleotide polymorphisms(SNPs) of the STX1A gene and Han children with autism spectrum disorder(ASD) in Jiangxi Province. Methods The STX1A gene RS941298,RS4717806, RS2228607, and RS875342 loci were detected in 170 ASD children and 200 normal children, and a comprehensive analysis was conducted based on the clinical symptoms of ASD children. Results There was no statistically significant difference in the genotype frequencies of the four SNPs of the STX1A gene between children with ASD and children in control group(P>0.05).In addition, no statistically significant association was found between the genotype frequencies of the four SNPs of the STX1A gene in children with ASD and the severity(P>0.05). For patients with mild ASD, there was also no significant difference between the genotype frequencies of the four SNPs and severity of ASD(P>0.05). Conclusion There is no significant correlation between the geno type frequencies of the four loci of the STX1A gene and childhood autism. This study provides an important reference for exploring the genetic mechanism of ASD and helps us gain a deeper understanding of the pathogenesis of neurodevelopmental disorders.更多还原