关键词: 遗传学, 多态性, 单核苷酸, 基因频率

Abstract: Objective To investigate the genetic association between the GLRA1 locus in chromosome 5 with susceptibility to schizophrenia among 91 Chinese Han family trios consisting of fathers, mothers, and affected offsprings with schizophrenia. Methods Genomic DNA was isolated from the whole blood samples. The PCR-based restriction fragment length polymorphism (RFLP) technique was used to detect the single nucleotide polymorphism（SNPs）,rs1428157, which was a base mutation for C to A at the GLRA1 locus. Results The distribution of genotype frequencies of rs1428157 was not deviated from the Hardy-Weinberg equilibrium; Haplotype relative risk test (HRR) did not show a genetic association between rs1428157 and schizophrenia (χ²=0.293,P>0.05）; Transmission disequilibrium test (TDT) did not show significant biased transmission from parents to affected offspring（χ²=0.281，P>0.05）; There were significant correlations between allele frequencies and incoherence of thinking and delusion of being revealed. Conclusion The rs1428157 itself is not associated with schizophrenia, but it has significant correlation with incoherence of thinking and delusion of being revealed.

Key words: genetics, polymorphism, single nucleotide, gene frequency