人类酪氨酸羟化酶基因SNP多态性与精神疾病的相关性

目的通过调查人类酪氨酸羟化酶（tyrosine hydroxylase,TH）基因的部分SNP在正常及疾病群体中的分布,探讨TH基因与精神疾病的相关性。方法采用DNA测序和实时荧光定量PCR技术,选择正常人、精神分裂症患者、抑郁症患者群体及部分精神分裂症患者家系的DNA为样本,对TH基因外显子3中的G334A和内含子9中的C5162G两个SNP位点进行分析。结果（1）G334A位点G和A的等位基因频率分布分别为：正常人群0.214和0.786;精神分裂症群体0.133和0.867;抑郁症群体0.116和0.884。（2）C5162G位点C和G的等位基因频率分布分别为：正常人群0.961和0.039;精神分裂症群体0.962和0.038;抑郁症群体0.959和0.041。结论G334A基因频率的分布在正常人群与精神分裂症和忧郁症群体之间的差别均有统计学意义,而C5162G基因频率的分布无统计学意义。

The association of tyrosine hydroxylase gene polymorphism with mental disorder

Objective To evaluate the relationship between the tyrosine hydroxylase(TH) gene and mental disorder by comparing the two TH gene SNP points(extron 3 and intron 9) of patients with mental disorders and normal human. Methods DNA extracted from specimens of patients and normal subjects were quantified by using Real-time PCR. Results (1) G334A distribution was: G=0.133,A=0.867 in patients with schizophrenia,G=0.116,A=0.884 in patients with depression,and G=0.214,A=0.786 in normal group. (2) C5162G distribution was: C=0.962,G=0.038 in patients with schizophrenia,C=0.959,G=0.041 in patients with depression,and C=0.961,G=0.039 in normal group. Conclusion There are statistically significant differences in G334A locus between normal people and patients with mental disorders,but no statistically significant differences in C5162G locus.