中文摘要：

用来自中国秦巴山区的187例非特异性精神发育迟滞（NSMR）儿童及213例正常对照儿童组成病例对照样本,采用PCR-SSCP结合测序方法,对NLGN3基因上的6个SNP标记位点进行分型,采用关联分析法分析位点多态性与NSMR的关系,进而探讨NLGN3基因多态性与当地NSMR的相关性。单位点分析结果显示rs11795613位点的等位基因频率与基因型频率在NSMR与对照组间均存在显著性差异（p值分别为0.000 9,0.006）,其它5个标记均未有显著性差异（p〉0.05）。单倍型分析表明,rs5981077-rs11795613组成的单倍型和秦巴山区NSMR显著相关（p=0.0004）,与单位点分析结果一致。由此推断,NLGN3基因多态性与秦巴山区儿童NSMR有关,在该基因的rs11795613位点以及rs5981077-rs11795613单倍型块所标记的染色体区段中,可能存在着致病突变位点。

英文摘要：

The experimental samples including 187 NSMR cases and 213 normal children as matched controls were recruited from Qinba region in this study, to genotype 6 SNP loci in NLGN3 gene by using PCR-SSCP and DNA sequencing. To investigate the possible genetic association between NLGN3 gene and non-specific mental retardation（NSMR） of Qinba region. The results based on unit point analysis showed that the allele frequency and genotype frequency of the rs11795613 had significant difference between NSMR and the control group（p value was 0.000 9, 0.006）, and the other 5 markers had no significant difference in the two groups（p〉0.05）. Haplotype analysis showed that rs5981077-rs11795613 haplotype block was positively associated with NSMR in Qinba region（p=0.000 4）, which was consistent with the unit point analysis. Our results suggested thatNLGN3 should be significantly associated with NSMR in Qinba region. There may be causative mutation sites near the chromosome segments marked by rs11795613 locus and rs5981077-rs11795613 haplotype block.