›› 2012, Vol. 28 ›› Issue (3): 195-197.DOI: 10.3969/j.issn.1004-5619.2012.03.009

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Polymorphisms of rs4906902 and rs8179184 Loci in the Promoter of the GABRB3 Gene and Their Relevance with Schizophrenia

SUN XUE-FEI1, DING MEI1, SUN YING2, PANG HAO1, XUAN JIN-FENG1, XING JIA-XIN1, LI CHUN-MEI1, WANG BAO-JIE1   

  1. (1. School of Forensic Medicine, China Medical University, Shenyang 110001, China; 2. Third People’s Hospital of Liaoning Province, Kaiyuan 112300, China)
  • Online:2012-06-25 Published:2012-06-28

Abstract: Objective To investigate the polymorphisms of rs4906902 and rs8179184 loci in the promoter of the gamma-aminobutyric acid(GABA) receptor A, β3 subunit gene(GABRB3), and their relevance with schizophrenia. Methods PCR and DNA sequencing were used to detect the polymorphisms of rs4906902 and rs8179184 loci in 210 healthy individuals(control group) and 206 schizophrenic patients(case group) of the Han population in northern China. The χ2 test was used to identify Hardy-Weinberg equilibrium of the genotype distribution in the control group followed by comparing differences in genotype and haplotype frequency distributions between two groups. Results Distributions of the genotype frequencies fit the law of Hardy-Weinberg equilibrium in the control group. rs4906902 and rs8179184 loci were in linkage disequilibrium and showed two haplotypes which were T-G and C-A. The differences of genotypic frequencies and haplotype frequencies were statistically significant between the two groups(P<0.05). The frequency of haplotype C-A in the case group was significantly higher than in the control group. Genotypic and haplotype frequencies in the maternal line and paternal line were statistically significant in the case group(P<0.05). Conclusion The haplotype of C-A in rs4906902 and rs8179184 loci in the promoter of GABRB3 gene may be maternally inherited and positively associated with schizophrenia and may be a useful tool in the forensic identification of schizophrenia.

Key words: forensic genetics, forensic psychiatry, polymorphism, genetic, schizophrenia, receptor, GABA

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