DDC与DRD1基因单核苷酸多态性与中国汉族儿童孤独症的关联研究  

Association study of SNP in DDC and DRD1 gene with childhood autism in Chinese Han population

作　　者：虞洪[1] 刘军[2] 杨爱平[2] 杨国绘 杨文娟[2] 章锃瑜[3] 

机构地区：[1]浙江萧山医院精神卫生中心,浙江杭州311201 [2]浙江萧山医院检验科,浙江杭州311202 [3]杭州市萧山区第一人民医院,浙江杭州311200

出　　处：《中华全科医学》2016年第1期50-51,139,共3页Chinese Journal of General Practice

基　　金：浙江省卫生与计划委员会科研项目(2014ky B225);杭州市科学技术委员会资助项目(20140633B48);杭州市萧山区科技局资助项目(2013303)

摘　　要：目的探讨多巴脱羧酶(dopa decarboxylase,DDC)与多巴胺受体-1(dopamine receptor-1,DRD1)基因单核苷酸多态性(single nucleotide polymorphisms,SNPs)和中国汉族儿童孤独症之间的关系。方法应用Taq Man探针方法对97名孤独症患儿和100名健康儿童进行DDC基因rs6592961和DRD1基因rs251937单核苷酸多态性的基因型测定。用儿童孤独症评定量表(Children Autism Rating Scale,CARS)评价孤独症患儿临床表型特征。应用χ2检验比较不同基因型和等位基因在孤独症病例组和对照组之间的分布情况。结果 1病例组和对照组儿童的DDC基因rs6592961位点和DRD1基因rs251937位点等位基因频率和基因型分布上差异均无统计学意义(P>0.05)。2孤独症组病情轻中度与重度儿童DDC的rs6592961和DDR1的rs251937位点等位基因频率和基因型分布上差异均无统计学意义(P>0.05)。结论 DDC基因rs6592961位点和DRD1基因rs251937位点单核苷酸多态性可能与中国汉族儿童孤独症的发病无关联。Objective To explore the association between single nucleotide polymorphisms （SNPs in Dopa decarboxylase （DDC） and dopamine receptor-1 （DRD1） genes and childhood autism in Chinese Han population. Methods TaqMan Probes Real-Time PCR was used to determine genotype and allele frequency of SNPs of DDC gene （ rs6592961 ） and DRDI （ rs251937 ） gene in 97 Chinese autism children and 100 healthy children. The Children Autism Rating Scale （CARS） was used to evaluate clinical phenotype feature. The allele and genotype between case group and control group were analyzed by Chi-square test. Results ①There was no statistically significant correlation to allele or genotype be- tween control group and case group（ P 〉 0.05 ）. ②There was no statistically significant correlation between allele or geno- type of SNPs of DDC gene （ rs6592961 ） and DRD1 gene （ rs251937 ） and the degree of autism （ P 〉 0.05 ）. Conclusion The SNP of DDC gene（ rs6592961 ）and DRD1 gene （rs251937 ） may not be related to childhood autism in Chinese Hanpopulation.

关 键 词：孤独症 单核苷酸多态性(SNPs) 多巴脱羧酶 多巴胺受体-1 基因 

分 类 号：R749.94[医药卫生—神经病学与精神病学]