Abstract: 【Objective】 To investigate the relationship between estrogen receptor polymorphisms and autistic children's clinical phenotype feature. 【Methods】 TaqMan Probes Real-time PCR was used to detect the genotypes of two SNPs of ER in 127 autistic children.The Children Autism Rating Scale(CARS)was used to evaluate clinical phenotype feature. 【Results】 There was no significant difference in mild-medium group and severe group of CARS scores between different genotypes of rs11155819 and rs1152582 (P>0.05).For rs11155819,significant difference was found in verbal communication subscale between genotypes C/T and T/T (P=0.048).For rs1152582,significant differences were found in nonverbal communication subscale and activity level subscale between genotypes C/C and G/G(P=0.035;P=0.030). 【Conclusions】 In rs11155819,the children with T/T genotype had more obvious verbal communication difficulty than the children with C/T genotype.In rs1152582,the children with C/C genotype had more obvious nonverbal communication difficulty and abnormal activity than the children with G/G genotype.

Key words: autism, estrogen receptor, gene polymorphisms, clinical phenotype feature

摘要： 【目的】 探讨雌激素受体(estrogen receptor,ER)基因多态性与儿童孤独症临床表型特征的关系。 【方法】 应用TaqMan荧光探针Real-Time PCR的分析方法对127名孤独症患儿进行ERα的单核苷酸多态性片断rs11155819和ERβ的单核苷酸多态性片断rs1152582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。 【结果】 孤独症病情严重程度在rs11155819和rs1152582的不同基因型之间的差异无统计学意义(P>0.05)。rs11155819基因型为C/T、T/T的孤独症儿童在语言交流项得分的差异有统计学意义(P=0.048)。rs1152582基因型为C/C、G/G的孤独症儿童在非言语交流项、活动水平项得分的差异有统计学意义(P=0.035;P=0.030)。 【结论】 rs11155819基因型中,携带T/T的患儿比携带C/T的患儿有更明显的语言交流障碍。rs1152582基因型中,携带C/C的患儿比携带G/G的患儿有更明显的非言语交流障碍和活动异常。

关键词: 孤独症, 雌激素受体, 基因多态性, 临床表型特征