人类第6号染色体NOTCH_4基因位点多态性与精神分裂症的关系

目的 :探讨人类第 6号染色体上与精神分裂症有关的易感基因位点。方法 :应用 PCR-RFLP方法检测 88个精神分裂症患者及其健康父母组成的核心家系单核苷酸多态性 ( SNP)rs3870 71。结果 :精神分裂症患者健康父母 rs3870 71等位基因频率的分布符合 Hardy- Weinberg平衡 ;单倍型相对风险分析 ( HRR)表明 ,该基因位点与精神分裂症无关联 ( χ2 =0 .5 4 9,P>0 .0 5 ) ;传递不平衡检验 ( TDT)显示 ,父母和患者之间不存在传递不平衡 ,杂合父母传递给受累子女与非传递等位基因频率分布无差异 ;该基因位点与精神分裂症的关系妄想症状密切相关 ( χ2 =7.1 89,P=0 .0 2 8)。结论 :rs3870 71本身不是决定精神分裂症易感的 SNP位点 ,但是其位点多态性与精神分裂症的关系妄想症状密切相关

Relationship Between the NOTCH4 Locus of Chromosome 6 and Schizophrenia

Objective: To investigate the genetic association of the rs387071 locus in chromosome 6 with susceptibility to schizophrenia among 88 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 polymorphisms (SPNs), rs387071, which is a base mutation for G to A at the rs387071 locus. Results: ①The distribution of genotype frequencies of rs387071 was not deviated from the Hardy Weinberg equilibrium; ② Heplotype relative risk (HRR) test did not show a genetic association between rs387071 and schizophrenia( χ 2=0.549 P >0.05); ③Transmission disequilibrium test (TDT) did not show significantly biased transmission from parents to affected offspring( χ 2=0.441,P >0.05); ④There was significantly correlation between genotype frequencies and delusion of reference.Conclusion: The rs387071 itself is not an susceptible associated with schizophrenia but it has significantly correlated with delusion of reference.