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CD157/BST1基因多态性与自闭症谱系障碍患儿的关系
杨柳,刘玉山,吴宁渤
0
(秦皇岛市第一医院心理医学科)
摘要:
【摘要】 目的 研究CD157/BST1基因rs4301112位点单核苷酸多态性(SNP)与儿童自闭症谱系障碍(ASD)发生风险的关系。 方法 将2017年3月~2019年1月在我院就诊的102例ASD患儿作为ASD组,100例无神经发育障碍的健康儿童为对照组。根据儿童自闭症评定量表(CARS)评分结果将ASD患儿分为轻中度组(66例)和重度组(36例)。采用Sanger测序法对受试儿童血液样本中CD157/BST1基因位点rs4301112进行测序,分析CD157/BST-1基因位点rs4301112单核苷酸多态性(SNP)与ASD病情严重程度及发病风险的关系。 结果 ASD组CD157/BST1基因rs4301112位点AG基因型分布频率和G等位基因分布频率高于对照组(P<0.05)。显性模式下,ASD组AG+GG基因型频率高于对照组(P<0.05)。ASD重度组AG基因型频率和C等位基因频率高于轻中度组(P<0.05),AA和GG基因型频率及A等位基因频率与轻中度组比较差异无统计学意义(P>0.05)。Logistic回归分析显示,AG基因型是ASD发病的危险因素。 结论 CD157/BST-1基因rs4301112位点AG基因型和G等位基因可能与ASD发生风险及病情严重程度有关。
关键词:  自闭症谱系障碍  CD157/BST-1基因  rs4301112位点  单核苷酸多态性
DOI:
基金项目:
Study on the relationship between CD157/BST1 gene polymorphism and children with autism spectrum disorder
YANG Liu,LIU Yushan,WU Ningbo
(Department of Psychological Medicine, The First Hospital of Qinhuangdao)
Abstract:
【Abstract】 Objective To study the relationship between single nucleotide polymorphism (SNP) at rs4301112 locus of CD157/BST1 gene with the risk of childhood autism spectrum disorder (ASD). Methods 102 children with ASD from March 2017 to January 2019 in Affiliated Hospital of Xuzhou Medical University were treated as ASD group. 100 healthy children without neurodevelopmental disorders were taken as control group. The children with ASD were divided into mild to moderate group (66 cases) and severe group (36 cases) according to the results of Children Autism Rating Scale (CARS). The CD157/BST-1 locus rs4301112 in blood samples of children was sequenced by Sanger sequencing. The relationship between single nucleotide polymorphism (SNP) of CD157/BST-1 locus rs4301112 with the severity and risk of ASD were analyzed. Results The distribution frequencies of AG genotype and G allele at rs4301112 locus of CD157/BST-1 gene in ASD group was higher than that in control group (P<0.05). Under dominant mode, the frequency of AG + GG genotype in ASD group was higher than that in control group (P<0.05). The frequencies of AG genotype and C allele in severe ASD group was higher than that in mild and moderate ASD group (P<0.05). There was no significant difference in genotype frequencies of AA and GG and frequencies of A allele between severe group with mild and moderate group (P>0.05). Logistic regression analysis showed that AG genotype was a risk factor for ASD. Conclusion The AG genotype and G allele at rs4301112 locus of CD157/BST-1 gene may be related to the risk and severity of ASD.
Key words:  Autism spectrum disorder  CD157/BST-1 gene  Rs4301112 locus  Single nucleotide polymorphism

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