关键词: 精神分裂症/遗传学, 表型, 多态性, 单核苷酸, 肌球蛋白9B基因, rs2279007, rs8113494, rs1545620

Abstract:

Abstract:Objective To investigate the association between myosin ⅨB (MYO9B) gene polymorphisms and schizophrenia and its clinical phenotypes in the North Chinese Han population,and to clarify the genetics mechanism of occurrence of schizophrenia. Methods Genomic DNA was isolated from the whole blood samples in  427 patients with schizophrenia and 439 ethnicity-matched healthy controls.The PCR-based restriction fragment length polymorphism (PCR-RFLP) method was used to examine the genotypes and alleles of the rs2279007,rs8113494, and rs1545620 sites at MYO9B gene.The Hardy-Weinberg equilibrium for the  genotypic distribution of rs2279007,rs8113494, and rs1545620 in the schizophrenia patients and the controls was estimated by the goodness-of-fit χ2 test,and the association between the allelic and genotypic frequencies of single nucleotide polymorphisms(SNPs) sites at MYO9B gene and schizophrenia and its clinical phenotypes was analyzed by χ2 test.Results There were no significant differences of the allelic  and genotipic frequencies of MYO9B gene between the  schizophrenia patients and the controls(P>0.05).Phenotypic analysis suggested that the genotipic frequency of   rs2279007  site was associated with Hallucination-delusion syndrome (χ2=4.160，P=0.041) and the genotipic frequency of rs1545620 site was associated with aboulia (χ2=10.768,P=0.013) in schizophrenic patients.Conclusion MYO9B gene may  be not involved in the occurrence  of schizophrenia,but may be associated with Hallucination-delusion syndrome and aboulia of schizophrenia in the North Chinese Han population.

Key words: schizophrenia/ genetics, phenotype, polymorphism,single nucleotide, myosin 9B