偏执型精神分裂症患者GRIN1基因-855G/C与-1140G/A位点的遗传多态性

目的探讨GRIN1基因启动子区两个单核苷酸多态性位点-855 G/C、-1140 G/A遗传多态性与偏执型精神分裂症的相关性及法医学意义。方法采用PCR限制性片段长度多态性(restriction fragment length polymorphism,RFLP)结合PAGE法对中国北方汉族183例健康无关个体和172例偏执型精神分裂症患者GRIN1基因5′端的-855 G/C和-1140 G/A位点多态性进行检测,采用χ2检验人群中基因型分布是否符合Hardy-Weinberg平衡定律,并比较两组人群中基因型和等位基因频率分布的差异。结果两组群体基因型分布符合Hardy-Weinberg平衡定律。-855 G/C位点基因型分布在对照组女性和实验组女性间的差异具有统计学意义(P0.05),-1140 G/A位点基因型和等位基因频率分布在对照组和实验组间及两组女性间差异具有统计学意义(P0.05)。结论 GRIN1基因启动子区-1140 G/A位点单核苷酸多态性可能与精神分裂症存在相关性;精神分裂症发生的遗传学因素可能存在性别倾向,可为精神分裂症的司法鉴定提供参考。

Correlation between Genetic Polymorphisms of-855 G/C and-1140 G/A in GRIN1 Gene and Paranoid Schizophrenia

Objective 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. Methods The genetic polymorphisms of-855 G/C and -1140 G/A at the 5＇ end of GRINI 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 para- noid schizophrenia, respectively. The X2 test was used to identify Hardy-Weinberg equilibrium of the genotype distribution. The differences of genotypes and allelic frequency distributions were compared be- tween the two groups. Results Distributions of the genotypic frequencies satisfied Hardy-Weinberg equi- librium 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 allel- ic 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）. Conclu- sion 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.