关键词: 流行病学, 多态性, 单核苷酸, PIP3-E基因

Abstract: Objective To investigate the genetic association of the PIP3-E locus in the long arm of chromosome 6 with schizophrenia among 89 Chinese Han family trios, consisting of fathers, mothers, and affected offsprings with schizophrenia. Methods Genomic DNA was abstracted from the whole blood samples. The PCR-based restriction fragment length polymorphism (RFLP) technique was used to detect the association between single nucleotide polymorphism（SNPs）of rs2236257 and schizophrenia. Results ①The distribution of genotype frequencies of rs2236257 was not deviated from the Hardy-Weinberg equilibrium; ②The haplotype relative risk test (HRR) did not show a genetic association between rs2236257 and schizophrenia (P>0.05); ③The transmission disquilibrium test (TDT) did not show significantly biased transmission from parents to affected offsprings（P>0.05）; ④There were correlations between rs2236257 allele frequencies and some clinical symptoms of schizophrenia,such as incoherence of thinking,poverty of thought and premorbid personality (P<0.05). Conclusion The polymorphism of rs2236257 in the PIP3-E locus may not be associated with schizophrenia although the association of the other SNPs at the PIP3-E locus with the illness can not be ruled out.

Key words: epidemiology, polymorphism, single nucleotide, PIP3-E locus