13q33LOC122330位点与精神分裂症的关系

目的 :在中国北方汉族精神分裂症患者和其健康父母组成的 1 0 5个核心家系中探讨1 3q33LOC1 2 2 330位点与精神分裂症的关系。方法 :从全血中提取基因组 DNA,应用 PCR- RFLP方法检测 LOC1 2 2 330位点编码序列第 864个碱基从异亮氨酸到蛋氨酸的错义突变单核苷酸多态性 ( rs942 35 8)的分布。结果 :1 rs942 35 8基因型频率的分布符合 Hardy- Weinberg平衡 ;2单倍型相对风险分析 ( HRR)表明 ,rs942 35 8与精神分裂症无关联 (χ2 =0 .61 9P>0 .0 5 ) ;3传递不平衡检验( TDT)显示 ,父母和受累子女之间不存在显著的传递不平衡 (χ2 =0 .2 2 2 ,P>0 .0 5 ) ,即杂合父母传递给受累子女的等位基因无差异 ;4等位基因频率与精神分裂症的各种临床症状不相关。结论 :LOC1 2 2 330位点 rs942 35 8可能与精神分裂症无关 ,但不能排除该位点其它 SNPs与精神分裂症有关联

Analysis of Association between the LOC122330 Locus in 13q33 and Schizophrenia

Objective: To investigate the genetic association of the LOC122330 locus in chromosome 13q33 with susceptibility to schizophrenia among 105 Chinese Han Family trios consisting of fathers, mothers, and affected offspring with schizophrenia. Methods: Genomic DNA was isolated from the whole blood samples. The PCR based restriction fragment length polymorphism (RFLP) technique was used to genotype one of single nucleotide polymorphism(SNPs),rs942358, which is a missense mutation for an Ile to Met substitution at the LOC122330 locus. Results:①The distribution of genotype frequencies of rs942358 was not deviated from the Hardy Weinberg equilibrium; ②Haplotype relative risk test (HRR) did not show a genetic association between rs942358 and schizophrenia;③Transmission disequilibrium test (TDT) did not show significantly biased transmission from parents to affected offspring;④There were no correlations between allele frequencies and the clinical symptoms of schizophrenia. Conclusion: The LOC122330 locus may not be associated with schizophrenia although the association of the other SNPs at the LOC122330 locus with susceptibility to schizophrenia can not be ruled out. [