DDC与DRD1基因单核苷酸多态性与儿童孤独症临床表型特征的相关性研究  

Study on relationship between single nucleotide polymorphisms polymorphisms of DDC and DRD1 and clinical phenotype feature in autistic children

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

机构地区：[1]浙江萧山医院检验科,杭州311201 [2]浙江萧山医院精神卫生中心,杭州311201 [3]杭州师范大学医学院附属萧山第一医院儿科

出　　处：《中国医师杂志》2015年第12期1797-1800,共4页Journal of Chinese Physician

基　　金：浙江省卫生与计划委员会科研项目（2014kyB225）;杭州市科学技术委员会资助项目（20140633848）;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（DDC）与多巴胺受体-1（DRD1）基因单核苷酸多态性（SNPs）和儿童孤独症临床表型特征的关系。方法应用TaqMan探针方法对97例孤独症患儿进行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评价孤独症患儿临床表型特征。结果孤独症病情轻、中度组与重度组儿童DDC的rs6592961和DRD1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）；DDC的rs6592961基因型G／G、A／A的孤独症儿童与非生命项得分的差异有统计学意义（P=0．043）。DRD1的rs251937基因型为T／T、C／C的孤独症儿童在情感反应项得分的差异有统计学意义（P=0．029）。结论DDC基因rs6592961多态性位点，携带G／G的患儿比携带A／A的患儿在与非生命项方面表现了严重的对物体的不适当的兴趣、使用和探究；DRD1基因rs251937多态性位点，携带T／T的患儿比携带C／C的患儿对环境极少有情绪反应，或反应过于强烈。Objective To investigate the association between single nucleotide polymorphisms （SNPs） of DOPA decarboxylase （DDC） and dopamine receptor-1 （DRDI） and clinical phenotype feature in autistic children. Methods TaqMan probes real-time polymerase chain reaction （PCR） was used to determine genotype and allele of SNPs of DDC gene （rs6592961） and DRD1 （rs251937） gene in 97 autism children. The Children Autism Rating Scale （CARS） was used to evaluate clinical phenotype feature. Resulks There was no significant difference in the distribution of the allelic frequency and genotype between mild-medium group and severe group of CARS scores （ P 〉 0. 05 ）. For DDC gene （ rs6592961 ） , significant difference was found in subscale between genotypes G/G and A/A （ P = 0. 043 ）. For DRD1 gene （rs251937）, significant difference was found in subscale between genotypes T/T and C/C （ P =0. 029 ）. Conclusions In DDC gene （ rs6592961 ） , the children with G/G genotype were more obvious than the children with A/A genotype. In DRD1 gene （rs251937） , the children with T/T genotype were more obvi- ous than the children with C/C genotype.

关 键 词：多巴脱羧酶/遗传学 受体 多巴胺/遗传学 孤独性障碍/遗传学 

分 类 号：R749.94[医药卫生—神经病学与精神病学]