MBD3基因多态性与精神分裂症的关联性分析

目的：探讨MBD3基因多态性与精神分裂症的关系，为精神分裂症的病因学研究奠定基础。方法：以中国北方汉族精神分裂症患者及其健康父母组成的50个核心家系（共计150例）为研究对象，对MBD3基因上的标签 SNP rs4807934和rs4807122位点采用多重聚合酶链式反应 (PCR) 和连接酶检测反应 (LDR) 方法进行基因型检测，采用拟合优度χ2检验分析基因型频数分布是否符合Hardy-Weinberg平衡定律，进行基于家系的单倍体相对风险分析(HRR)和传递不平衡检验(TDT)分析。结果：MBD3基因上rs4807934和rs4807122位点基因型在患者组和父母组中频数分布均符合Hardy-Weinberg平衡定律；HRR分析，rs4807934和rs4807122位点等位基因在患者组和父母组的频数分布差异无显著性(均P>0.05)；TDT分析，rs4807934和rs4807122位点杂合子父母双亲传递给患病子女的2个不同等位基因概率均未偏离50%(P>0.05)。结论：MBD3基因上rs4807934和rs4807122位点所代表的区域可能与精神分裂症的发病无关联。

Association between MBD3 gene polymorphism and schizophrenia

Objective To investigate the association between MBD3 gene polymorphism and schizophrenia and provide theoretical basis for its etiological study.Methods The method of PCR-based ligase detection reaction (PCR-LDR) was applied to detect the genotypes of the tag SNP on MBD3 gene in 50 family trios consisting of fathers,mothers,and affected offsprings with schizophrenia.Hardy-Weinberg equilibrium for genotypic distribution was estimated by the goodness-of-fit x~2 test.The frequencies of genotype and allele of rs4807934 and rs4807122 locus of MBD3 gene were statistically computed.Results The distribution of genotypic frequency of rs4807934 and rs4807122 did not deviate from Hardy-Weinberg equilibrium either in the patient group or in the parent group(P>0.05).The haplotype relative risk test (HRR) showed there was no significant difference of frequency distribution of allele of rs4807934 and rs4807122 between patient group and parent group(P>0.05).The transmission disquilibrium test (TDT) showed the allele of rs4807934 and rs4807122 transmitted ftom heterozygotic parents to affected offsprings did not bias from 50%(P>0.05) Conclusion The polymorphism of rs4807934 and rs4807112 of MBD3 gene may be not involved in the cause of schizophrenia in North Chinese Han population.