多巴胺D_5受体基因多态性与精神分裂症的关联研究

Dopamine D_5 receptor gene polymorphism and schizophrenia in a Chinese population

目的 探讨昆明地区汉族人群多巴胺D5受体 (DRD5 )基因多态性与精神分裂症的关系。方法 对 79例精神分裂症患者 (患者组 )和 75名正常对照者 (对照组 )采用聚合酶链反应 (PCR)扩增DRD5基因二核苷酸多态性片段 ,并通过聚丙烯酰胺凝胶电泳对PCR扩增产物进行多态性分型鉴定。比较患者组与对照组DRD5基因各等位基因分布频率。结果 ( 1)患者组与对照组之间等位基因分布的差异无显著性 ( χ2 =12 2 6 ,P >0 0 5 )。 ( 2 )女性患者比男性患者及对照组 14 0bp等位基因有更高的分布频率 ;与男性患者比较 ,相对危险度 (RR) =2 73( χ2 =5 33,P <0 0 5 ) ;与对照组比较 ,RR =2 0 1( χ2 =4 5 9,P <0 0 5 )。结论 未发现汉族人群中DRD5基因多态性与精神分裂症存在明显关联 。

Objective To explore the relationship between the dinucleotide repeat polymorphism of Dopamine D 5 receptor (DRD5) gene and schizophrenia in a Chinese Han population Methods A case control study was performed in 79 patients with schizophrenia and 75 controls DRD5 genotypes were detected with polymerase chain reaction (PCR) and 6% polyacryamide gel electrophoresis Results No significant difference was observed between patients and controls for genotypes or allele frequencies of the dinucleotide repeat polymorphism of DRD5 (χ 2=12 26, P> 0 05), but there was higher frequency of allele 140 bp in female patients than in male patients ( RR= 2 73, χ 2=5 33, P< 0 05) and in controls ( RR= 2 01, χ 2=4 59, P< 0 05) Conclusions No association between DRD5 and schizophrenia is found in this Chinese Han population, but the 140 bp allele may affect the susceptibility to schizophrenia in female patients