CNTNAP2基因与汉族儿童孤独症的病例对照研究

A Case-control Study on the CNTNAP2 Gene in Association with Autism in Chinese Han Children

目的:探讨CNTNAP2基因的3个单核苷酸多态性(SNPs)位点rs10244837、rs7794745、rs10500171与汉族儿童孤独症之间的相关性。方法:应用聚合酶链式反应-限制性片段长度多态性(PCRRFLP)方法对汉族儿童孤独症患者及对照的rs10244837、rs7794745、rs10500171位点进行的基因分型,对所获分型数据进行病例对照关联分析。结果:孤独症病例和对照的CNTNAP2基因的3个SNPs的基因型频率分布均未偏离哈德温伯格平衡(P>0.05);CNTNAP2基因的rs10244837、rs7794745、rs10500171位点的基因型频率和单体型频率在病例与对照间比较差异无统计学意义(P>0.05)。结论:CNTNAP2基因的rs10244837、rs7794745、rs10500171位点的单核苷酸多态性及其单体型与儿童孤独症不相关。

Objective：To investigate the relationship between the rs10244837, rs7794745, rs10500171 SNPs of the CNTNAP2 gene and autism in Han Chinese.Method：The rs10244837, rs7794745, rs10500171 SNPs of CNTNAP2 was genotyped by PCR-RFLP in individuals with autism and normal subjects. An association study was performed used the data of genotyping.Result：The frequencies of the genotypes rs10244837, rs7794745, rs10500171 SNPs were in Hardy-Weinberg equilibrium（HWE）（P〉0.05）.There were no significant differences in allele frequency and haplotypes frequencies distribution of the CNTNAP2 gene between the autisms group and normal control group（P〉0.05）.Conclusion：The SNPs rs10244837, rs7794745, rs10500171 of CNTNAP2 gene were not association with autism in Han Chinese.