关键词: 精神分裂症, 遗传学, 疾病遗传易感性, 多态性, 限制性片段长度

Abstract: Objective To investigate the genetic association of DQA2 gene in the DQ supregion of MHCⅡregion with psychotic symptoms of schizophrenia. Methods The polymerase chain reaction (PCR) and restriction fragment length polymorphism (RELP) were applied in this research among the 190 Han family trios in the north of China. The chi-square (χ²) test, transmission disequilibrium test (TDT), and the haplotype-based relative risk (HRR) analysis were used to process the genotype data. Results The SNP rs2239800, a G to A base change, presented in the DQA2 locus showed significant associations with the delusion of observation (χ²=7.066, P=0.008) and also with the delusion of grandeur (P=0.045). And genotype of rs2239800 showed associations with genuine auditory hallucination (χ²=6.771, P=0.034), with delusion of observation (χ²=10.686, P=0.005), with delusion of grandeur(χ²=7.103, P=0.029), and with apathy （χ²=11.906, P=0.018）. Conclusion The DQA2 locus is very likely to be associated with such psychotic symptoms as genuine auditory hallucination, delusion of observation, delusion of grandeur and apathy.

Key words: schizophrenia, genetics, genetic predisiposition to disease, polymorphism, restriction fragment length