关键词: 遗传学, 多态性, 单核苷酸, KPNB3, rs626716

Abstract: To investigate the genetic association between KPNB3 gene in chromosome 13q32 and schizophrenic phenotypes in Han population from North China. Methods Genomic DNA was isolated from the whole blood samples.A single nucleotide polymorphism,rs626716 (Pst I site) present in the KPNB3 gene,was detected using PCR-based restriction fragment length polymorphism analysis among 752 Chinese Han patients with schizophrenia (case group) and 909 ethnicity-matched healthy controls (control group).The Hardy-Weinberg equilibrium for genotypic distribution was estimated by the goodness-of-fit χ² test.The frequencies of alleles and genotypes of KPNB3 gene and the relationship between allelic frequencies and the clinical phenotypes of schizophrenia were statistically computed. Results The goodness-of-fit χ² test showed that the genotypic distributions of rs626716 were not deviated from Hardy-Weinberg equilibrium in both case group and control group (P>0.05).The χ² test did not show allelic association and genotypic association for rs626716 (P>0.05).There were no correlations between allelic or genotypic frequencies and the clinical phenotypes of schizophrenia (P>0.05). Conclusion rs626716 locus may not be associated with schizophrenic phenotypes,but the correlation between the other SNPs locus at KPNB3 gene and schizophrenia could not be ruled out.

Key words: genetics, polymorphism, single nucleotide, KPNB3, rs626716