多巴胺β羟化酶基因外显子2单核苷酸多态性与精神分裂症的关联分析

Correlation Analysis Between Dopamine β-Hydroxylase Gene Polymorphism and Schizophrenia in Chinese Hans

目的:观察多巴胺β羟化酶基因(dopamine β-hydroxylase gene,DBH)外显子2单核苷酸多态性G444A在广州地区汉族人中的分布,探讨其与精神分裂症的关系。方法:以217例患者(家族性90例,散发127例)和109名健康人为对象进行病例-对照研究。用聚合酶链反应-限制性片段长度多态性方法分析DBH基因G444A多态性。结果:精神分裂症患者和正常人中DBH等位基因A的频率分别为84.3％和82.1％。患者与正常对照组之间DBH等位基因和基因型分布差异无显著性(P>0.05)。家族史对患者基因型或等位基因的频率分布没有影响。结论:广州地区汉族人群中DBH基因外显子2多态性外显子2与精神分裂症不具有关联。

Objective:To investigate the relationship between the G444A single nucleotide polymorphism in the exon 2 of dopamine β-hydroxylase gene (DBH) and schizophrenia in Chinese Hans. Methods: 217 patients with schizophrenia (90 familial and 127 sporadic) and 109 age-matched normal controls were examined for the single nucleotide polymorphism in the DBH gene by polymerase chain reaction and restriction fraction length polymorphism techniques. Results: The frequency of 444A allele was 84.3% in patients and 82. 1% in controls,respectively. No significant differences for allele or genotype frequency between patients and controls were observed in our study (P >0.05). No association between the single nucleotide polymorphism in the DBH gene and schizophrenia was revealed. Conclusion:Further study is required to investigate the possible role of dopamine β-hydroxylase gene in the pathegenesis of schizophrenia.