Li Zhong-Jie, Ding Mei, Pang Hao, Sun Xue-Fei, Xing Jia-Xin, Xuan Jin-Feng, Wang Bao-Jie
School of Forensic Medicine, China Medical University, Shenyang 110001, China.
Fa Yi Xue Za Zhi. 2013 Apr;29(2):107-9.
To investigate the single nucleotide polymorphisms (SNP) of -855 G/C and -1140 G/A in promoter regions of GRIN1 gene and find their genetic correlation to paranoid schizophrenia as well as their applicable values in forensic medicine.
The genetic polymorphisms of -855 G/C and -1140 G/A at the 5' end of GRIN1 gene were detected by PCR restriction fragment length polymorphism and PAGE in 183 healthy unrelated individuals of northern Chinese Han population and 172 patients of paranoid schizophrenia, respectively. The chi2 test was used to identify Hardy-Weinberg equilibrium of the genotype distribution. The differences of genotypes and allelic frequency distributions were compared between the two groups.
Distributions of the genotypic frequencies satisfied Hardy-Weinberg equilibrium in both groups. The difference of genotypes was statistically significant between female patient group and female control group in -855 G/C distribution (P < 0.05). The differences of genotypes and allelic frequencies were statistically significant not only between the patient group and the control group but also between female patient group and female control group in -1140 G/A distribution (P < 0.05).
The SNP of -1140 G/A in promoter regions of GRIN1 gene might positively correlate to paranoid schizophrenia. The genetic factor of schizophrenia is involved in gender tendency. And it could be useful in forensic identification of schizophrenia.
研究GRIN1基因启动子区域-855 G/C和-1140 G/A的单核苷酸多态性(SNP),探讨其与偏执型精神分裂症的遗传相关性及其在法医学中的应用价值。
分别采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)及聚丙烯酰胺凝胶电泳(PAGE)技术,检测183例中国北方汉族健康无关个体及172例偏执型精神分裂症患者GRIN1基因5′端-855 G/C和-1140 G/A的基因多态性。采用χ2检验分析基因型分布是否符合Hardy-Weinberg平衡。比较两组间基因型及等位基因频率分布的差异。
两组基因型频率分布均符合Hardy-Weinberg平衡。-855 G/C位点在女性患者组与女性对照组间基因型分布差异有统计学意义(P<0.05)。-1140 G/A位点在患者组与对照组间及女性患者组与女性对照组间基因型及等位基因频率分布差异均有统计学意义(P<0.05)。
GRIN1基因启动子区域-1140 G/A的SNP可能与偏执型精神分裂症呈正相关。精神分裂症的遗传因素存在性别倾向。其在精神分裂症的法医学鉴定中可能具有应用价值。