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目的 :探讨中国汉族人群 5 -HT转运体基因多态性 (HTTSNP1 8)与孤独症的关系。方法 :应用聚合酶链式反应与限制性片断长度多态性 (PCR -RFLP)分析方法对 175个孤独症核心家系测定基因型和等位基因。结果 :孤独症患儿与父母的基因频率和基因型频率的分布呈基本一致的趋势。传递不平衡检验(TDT)显示等位基因传递无统计学意义 ,(McNemarχ2 =0 0 0 ,P >0 0 5 )。结论 :本研究未发现 5 -HT转运体基因多态性 (HTTSNP1 8)与孤独症存在关联 ,提示该基因多态性不影响孤独症的易感性 ,在中国汉族孤独症发病中不起主要作用。
Objective: To investigate the relationship between 5-HT transporter gene polymorphism (HTTSNP1 8) and autism in Chinese Han population. METHODS: Genotypes and alleles of 175 autism nuclear families were determined by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Results: The distribution of gene frequency and genotype frequency of autistic children and their parents showed a consistent trend. Transmission disequilibrium test (TDT) showed no significant difference in allele transmission (McNemarχ 2 = 0 0 0, P 0 05). CONCLUSION: In our study, no association was found between 5-HT transporter gene polymorphism (HTTSNP1 8) and autism, suggesting that this gene polymorphism did not affect the susceptibility to autism, and could not play a major role in the pathogenesis of autism in Chinese Han .