Yu Hong, Liu Jun, Yang Aiping, Yang Guohui, Yang Wenjun, Lei Heyue, Quan Jianjun, Zhang Zengyu
Department of Child and Adolescent Mental Health, Zhejiang Xiaoshan Hospital, Hangzhou, Zhejiang, China.
Department of Clinical Laboratory, Zhejiang Xiaoshan Hospital, Hangzhou, Zhejiang, China
J Child Neurol. 2016 Apr;31(5):560-4. doi: 10.1177/0883073815601496. Epub 2015 Sep 3.
Genetic factors play an important role in childhood autism. This study is to determine the association of single-nucleotide polymorphisms in dopa decarboxylase (DDC) and dopamine receptor-1 (DRD1) genes with childhood autism, in a Chinese Han population. A total of 211 autistic children and 250 age- and gender-matched healthy controls were recruited. The severity of disease was determined by Children Autism Rating Scale scores. TaqMan Probe by real-time polymerase chain reaction was used to determine genotypes and allele frequencies of single-nucleotide polymorphism rs6592961 in DDC and rs251937 in DRD1. Case-control and case-only studies were respectively performed, to determine the contribution of both single-nucleotide polymorphisms to the predisposition of disease and its severity. Our results showed that there was no significant association of the genotypes and allele frequencies of both single-nucleotide polymorphisms concerning childhood autism and its severity. More studies with larger samples are needed to corroborate their predicting roles.
遗传因素在儿童自闭症中起着重要作用。本研究旨在确定中国汉族人群中多巴脱羧酶（DDC）和多巴胺受体-1（DRD1）基因的单核苷酸多态性与儿童自闭症之间的关联。共招募了211名自闭症儿童和250名年龄及性别匹配的健康对照。通过儿童自闭症评定量表评分来确定疾病的严重程度。采用实时聚合酶链反应的TaqMan探针来确定DDC基因中rs6592961和DRD1基因中rs251937单核苷酸多态性的基因型和等位基因频率。分别进行病例对照研究和仅病例研究，以确定这两种单核苷酸多态性对疾病易感性及其严重程度的影响。我们的结果表明，这两种单核苷酸多态性的基因型和等位基因频率与儿童自闭症及其严重程度之间均无显著关联。需要更多更大样本量的研究来证实它们的预测作用。
