关键词: 人, 13对, KPNB3, 多态性, 单核苷酸, 精神分裂症, 遗传学

Abstract: Abstract:Objective To reconfirm the association between KPNB3 gene polymorphism with schizophrenia in Chinese population. Methods Two single nucleotide polymorphisms (SNPs), rs2588014 and rs626716 at the KPNB3 locus, were detected in 304 Chinese Han family trios consisting of fathers, mothers and affected offsprings with schizophrenia with PCR-based restriction fragment length polymorphism (RFLP) analysis. The Hardy-Weinberg equilibrium for genotypic distribution was estimated by the goodness-of-fit test. The UNPHASED program was applied to perform the transmission disequilibrium test (TDT), the haplotype analysis and the pair-wise measure of linkage disequilibrium (LD) between these 2 SNPs. Results The genotypic distribution of both rs2588014 and rs626716 was not deviated from the Hardy-Weinberg equilibrium (P>0.05). The TDT showed significantly biased transmission from parents to affected offsprings for rs626716（χ²=9.31，P=0.002 3）.The allelic frequency transmitted from the heterozygote parents didn’〖KG-3〗t deviate for 50% at rs2588014 (χ²=3.44, P=0.064). The haplotype analysis also showed rs2588104(c)-rs626716(c) was transmitted by parents（χ²=9.8,P=0.006 8）. Conclusion There may be genetic association between KPNB3 gene polymorphism and schizophrenia in the Han descent population in the north of China.

Key words: human, pair 13, KPNB3, polymorphism, single nucleotide, schizophrenia, genetics