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目的 探讨孤独症与5-HT基因和APOE基因之间的关系。方法 应用PCR-RFLP技术对符合国际疾病分类第10版(ICD-10)中孤独症诊断标准的21例孤独症患儿和他们的父母进行了5-HT2a,5-HT6和APOE多态性的检测。结果 孤独症患儿与对照组5-HT2a,5-HT6和APOE的基因频率和基因型频率的分布呈基本一致的趋势,两组间未显示具有统计学意义的差别。采用基于单体型的单体型相对风险率分析方法,发现仅5-HT6基因中T等位基因与孤独症显著关联(RR=3.59,P<0.05)。传递不平衡检验(TDT)发现孤独症可能与5-HT6中T等位基因相连锁(McNemarX~2=5.4,P<0.05)。结论 5-HT6基因与孤独症的发病可能存在关联或连锁关系。
Objective To explore the relationship between autism and 5-HT gene and APOE gene. Methods Polymorphisms of 5-HT2a, 5-HT6 and APOE polymorphisms in 21 autistic children and their parents who met diagnostic criteria for autism in the International Classification of Diseases 10 (ICD-10) were analyzed using PCR-RFLP Detection. Results The frequencies of genotypes and frequencies of 5-HT2a, 5-HT6 and APOE in children with autism and controls were basically the same. There was no statistically significant difference between the two groups. Using the haplotype-based haplotype relative risk analysis method, only the T allele of 5-HT6 gene was significantly associated with autism (RR = 3.59, P <0.05). Transmission disequilibrium test (TDT) revealed autism may be linked to the T allele in 5-HT6 (McNemarX ~ 2 = 5.4, P <0.05). Conclusion There may be a correlation or linkage between 5-HT6 gene and the pathogenesis of autism.