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

Relationship between gene polymorphism on MHCⅡ region on the short arm of chromosome 6 and schizophrenia

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。

Objective To investigate the relationship between gene polymorphism on MHC Ⅱ region on the short arm of chromosome 6 （6p） and schizophrenia. Methods The polymerase chain reaction restriction fragment length polymorphism （RFLP） was used to test single nucleotide polymorphisms （SNPs） of five genes on MHC Ⅱ region on chromosome 6p. Transmission disequilibrium test （TDT） and haplotype relative risk （HRR） test were conducted to analyze the genotyping data of 106 pedigrees with schizophreina. The system consisted of multiple gene loci was also statistically analyzed. Results The frequency distribution of C and G of rs1049060 locus was significantly different （P 〈 0.05） between cases and controls. The frequencies distribution of alleles and genotypes of rs701831, rs707954, rs1047992 and rs129190 loci were not significantly different between cases and controls （ P 〉 0.05 ）. The rs1049060-rs129190, rs701831-rs707954, rs1047992-rs1049060-rs129190 , rs701831-rs707954-rs 1047992 and rs701831-rs707954-rs1047992-rs1049060 haplotype systems were associated with schizophrenia （P〈 0.05）. Conclusions There may be two alleles related with schizophrenia on MHC Ⅱ region of human.