APC基因单核苷酸多态性与汉族儿童孤独障碍的关联研究

发布时间：2018-03-26 00:28

本文选题：孤独障碍　切入点：APC基因　出处：《中国神经精神疾病杂志》2014年01期

【摘要】：目的探讨腺瘤性结肠息肉病基因(adenomatous polyposis coli,APC)单核苷酸多态性(single nucleotide polymorphisms,SNPs)与中国汉族儿童孤独障碍的关系。方法采用Illumina HumanHap CNV370-Duo芯片对278个孤独障碍核心家系(患者及其父母)、157例孤独障碍患者和435名正常对照进行全基因组SNP分型。从中选取APC基因内4个SNPs(rs2431512、rs454886、rs2546110、rs411356)的分型数据,采用病例—对照关联分析及传递不平衡检验(transmission disequilibrium test,TDT)分析等位基因与孤独障碍的关系。结果成功检测4个SNPs的基因型,4个位点的最小等位基因频率(minor allele frequency,MAF)5%,均符合Hardy-Weinberg平衡检验。孤独障碍组和对照组之间,4个SNPs的等位基因和基因型频率差异均无统计学意义(Ρ0.05),4个SNPs构成的单体型AAGA频率差异在未经过置换检验校正前有统计学意义(Ρ=0.041),校正后的差异无统计学意义(Ρ=0.188)。TDT分析表明,4个多态位点的等位基因及单体型的传递不平衡均无统计学意义(Ρ0.05)。结论本研究未发现APC基因的4个位点(rs2431512、rs454886、rs2546110、rs411356)与汉族儿童孤独障碍存在关联。
[Abstract]:Objective to investigate the relationship between adenomatous polyposis polyposis single nucleotide polymorphisms (SNPs) and loneliness disorder in Chinese Han children. Methods Illumina HumanHap CNV370-Duo microarray was used to study the relationship between the single nucleotide polymorphisms of adenomatous colonic polyposis and their parents. Genomic SNP typing was carried out in 435 patients with lonely disorder and 435 normal controls. The genotyping data of four SNPs rs2431512 rs454886 and rs2546110rs411356) were selected. The relationship between alleles and loneliness disorder was analyzed by case-control association analysis and transmission disequilibrium test (TDTT). Results four genotypes of SNPs were successfully detected, and the minimum allele frequency of 4 loci, allele frequency of allele frequency of MAFF5, were detected successfully, all of which were consistent with Hardy-Weinberg. Balance test. There was no significant difference in allele and genotype frequency of 4 SNPs between the lonely disorder group and the control group (ACA0.05, the haplotype AAGA frequency difference of 4 SNPs was statistically significant before being corrected by replacement test). The results showed that there was no significant difference between the four polymorphic loci and the transmission imbalance of haplotype. Conclusion there is no significant difference between the four loci of APC gene and Han children. Conclusion there is no significant difference between the four loci of APC gene and Han children's solitude. Conclusion there is no significant difference between the four loci of APC gene and the Han nationality children's solitaries in this study (P < 0. 041, P < 0. 041). Conclusion there are no significant differences between the four loci of APC gene and that of Han nationality children. There is a link to a single obstacle.
【作者单位】：新乡医学院第二附属医院;山东省精神卫生中心;中南大学医学遗传学国家重点实验室;中南大学湘雅二医院精神卫生研究所精神病与精神卫生学湖南省重点实验室;
【分类号】：R749.94

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