【摘要】 目的 探讨6号染色体短臂MHCⅡ类抗原区基因多态性与精神分裂症的关系。 方法 采用聚合酶链反应和限制性内切酶片段长度多态性方法检测位于6号染色体短臂MHCⅡ类抗原区基因上的5个单核苷酸多态性位点，对106个精神分裂症患者核心家系的等位基因和基因型进行传递不平衡和单倍型相对风险分析，同时对多位点构成的单倍型系统进行分析。 结果 rs1049060位点的C、G等位基因频数分布在病例组和对照组之间差异呈显著性(P<0.05);rs701831、rs707954、rs1047992和rs129190位点的等位基因和基因型频数分布在病例组和对照组之间差异均未见显著性(P>0.05)。rs1049060-rs129190、rs701831-rs707954、rs1047992-rs1049060-rs129190、rs701831-rs707954-rs1047992和rs701831-rs707954-rs1047992-rs1049060单倍型系统与精神分裂症相关联(P<0.05)。 结论 在人类MHCⅡ类基因区可能存在两个与精神分裂症相关的等位基因。

    【关键词】 精神分裂症;多态性，限制性片段长度;基因

    Relationship between gene polymorphism on MHCⅡregion on the short arm of chromosome6and schizophrenia

    TAO Ran，SHI Jie-ping，KOU Chang-gui，GUO Ying-jun，WEI Jun，YU Ya-qin.

    Research Center for Genomic Medicine，School of Public Health，Jilin University，Changchun 130021，China

    【Abstract】 Objective To investigate the relationship between gene polymorphism on MHCⅡregion on the short arm of chromosome6(6p)and schizophrenia.Methods The polymerase chain reaction re-striction fragment length polymorphism(RFLP)was used to test single nucleotide polymorphisms(SNPs)of five genes on MHCⅡregion on chromosome6p.Transmission disequilibrium test(TDT)and haplotype relative risk(HRR)test were conducted to analyze the genotyping data of106pedigrees with schizophreina.The system consisted of multiple gene loci was also statistically analyzed.Results The frequency distribution of C and G of rs1049060locus was significantly different(P<0.05)between cases and controls.The frequencies distribution of alleles and genotypes of rs701831 ......