PLA2G4C基因多态性与北方汉族儿童孤独症谱系障碍的关联性分析

发布时间：2018-04-29 07:12

本文选题：PLAGC基因 + 孤独症谱系障碍　；参考：《吉林大学学报(医学版)》2017年01期

【摘要】：目的:研究PLA2G4C基因单核苷酸多态性(SNPs)与北方汉族儿童孤独症谱系障碍(ASD)的关联性,探讨PLA2G4C基因是否为北方汉族儿童ASD的易感基因。方法:共纳入85例ASD患儿和183名健康儿童,选取5个SNPs位点(rs9226、rs1045376、rs251684、rs2307279和rs156631),采用Sequenom Mass ARRAY系统进行基因型检测,通过在线SNPStats分析程序进行各位点Hardy-Weinberg(H-W)平衡定律检验,分析基因型及等位基因频数分布、各位点遗传模型与ASD的关联和单体型与ASD的关联。结果:病例组和对照组PLA2G4C基因5个位点基因型频数分布均符合H-W平衡定律(P0.05);病例组和对照组基因型及等位基因频数分布差异无统计学意义(P0.05);遗传模型分析,各位点SNPs与ASD无关联(P0.05),rs251684、rs2307279和rs156631位点组成的各个单体型与ASD之间无关联(P0.05)。结论:PLA2G4C可能不是北方汉族儿童ASD的易感基因。
[Abstract]:Objective: to study the association between PLA2G4C gene single nucleotide polymorphisms (SNPs) and autistic spectrum disorder (ASD) in northern Han children, and to explore whether PLA2G4C gene is a susceptible gene for ASD in northern Han children. Methods: 85 children with ASD and 183 healthy children were selected from 5 SNPs loci rs92226rs1045376rs251684 rs2307279 and rs156631to detect the genotypes, and the Hardy-WeinbergH-W1 balance law was tested by on-line SNPStats analysis program. The frequency distribution of genotype and alleles was analyzed, and the association between ASD and haplotype and ASD was analyzed. Results: the genotype frequency distribution of PLA2G4C gene at 5 loci in case group and control group were all in accordance with H-W equilibrium law (P0.05A), while there was no significant difference in genotype and allele frequency distribution between case group and control group (P 0.05). There was no correlation between the haplotypes of SNPs and ASD and the rs156631 loci of rs251684, rs2307279 and ASD (P0.05). Conclusion\\\% PLA\ -2 G\ -4 C may not be a susceptibility gene to ASD in Han children in northern China.
【作者单位】：吉林大学公共卫生学院流行病与卫生统计学教研室;吉林大学第一医院儿科;吉林大学第一医院二部儿科;东北师范大学生命科学学院遗传与细胞研究所;
【基金】：国家科技部国际科技合作专项资助课题(2015DFA31580) 吉林省科技厅重点实验室专项基金资助课题(20140622001JC;20160622020JC) 中国博士后科学基金会资助课题(2013M530989)
【分类号】：R749.94

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