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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=0.000 4),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。
A total of 187 cases of non-specific mental retardation (NSMR) and 213 normal control children from Qinba mountain area of China were used to make case control samples. Six SNP loci on NLGN3 gene were screened by PCR-SSCP and sequencing method Type, correlation analysis was used to analyze the relationship between SNPs and NSMR, then to explore the correlation between NLGN3 gene polymorphism and local NSMR. The single point analysis showed that allele frequency and genotype frequency of rs11795613 were significantly different between NSMR and control group (p = 0.000 9,0.006, respectively), and no significant difference was found in the other five markers p> 0.05). Haplotype analysis showed that haplotypes of rs5981077-rs11795613 were significantly associated with NSMR in Qinba Mountains (p = 0.0004), which was consistent with the single point analysis. It is concluded that NLGN3 gene polymorphism is related to NSMR in Qinba Mountain children. There may be disease-causing mutation sites in rs11795613 and rs5981077-rs11795613 haplotype blocks.