DQA1、DQB1和DQB2基因多态性与精神分裂症的关系

目的 :探讨 1 1 6个家系的 6号染色体短臂 ( 6p) MHC区 DQA1、DQB1和 DQB2基因多态性与精神分裂症的关系。方法 :PCR技术和限制性内切酶片段长度多态性方法。结果 :DQA1位点G、A等位基因和 DQB2位点 G、C等位基因在病例组和对照组的频数分布差异无显著性( P>0 .0 5 )。DQB1位点 G、C等位基因在病例组和对照组的频数分布差异有显著性 ( P<0 .0 5 )。结论 :DQB1位点的基因多态性与精神分裂症有关联 ,G等位基因的频数分布病例组高于对照组 ,而DQA1和 DQB2位点的基因多态性与精神分裂症无关联 ;DQA1位点的等位基因在 3种不同程度情感迟钝、淡漠的精神分裂症患者中分布差异有显著性 ;DQB2位点的等位基因分布在精神分裂症不同的诊断分型之间的差异有显著性 ,其中的等位基因 C与偏执型和未分型精神分裂症有关联

Relationship between the Polymorphism of Gene DQA1,DQB1 and DQB2 and Schizophrenia

Objective: To investigate a genetic relationship between 3 HLA loci including DQA1, DQB1 and DQB2 of 6p21.3 and schizophrenia, in 116 family trios of Chinese Han descent. Methods: A PCR based RFLP procedure was employed to genotype SNPs present in the three loci. Results: The frequency distribution of G?A allele in DQA1 loci was no significantly different ( P >0.05) between the case and the control;The frequency distribution of G?C allele in DQB1 loci was significantly different ( P <0.05) between the case and the control;The frequency distribution of G?C allele in DQB2 loci was no significantly different ( P >0.05) between the case and the control. Conclusions: The TDT analysis showed that an SNP of G to C base change in the DQB1 locus was associated with schizophrenia ( χ 2= 4.584, P =0.032). The other 2 loci did not show allelic association with the illness, but they showed a genetic association either with negative symptoms of schizophrenia or with clinical subgroup of the illness. These results suggest that the HLA DQ region may contain a schizophrenia susceptibility gene although further study is needed to be done before a firm conclusion is drawn.