Nicolini H, Sidenberg D, Camarena B, Guerra C, Monteiro Grazina M, Petronis A, Kennedy J
Instituto Mexicano de Psiquiatría, México, D.F.
Rev Invest Clin. 1993 Jul-Aug;45(4):345-52.
This investigation reports an association study with alleles of the dopaminergic system genes (tyrosine hydroxylase (TH), D2 and D4 receptors) in schizophrenic patients and non-schizophrenic subjects. The genotypes were typed using a polymerase chain reactions PCR-based CA repeat polymorphisms. There were no significant associations between the studied alleles and schizophrenia. Also, a linkage analysis was performed using the same genes (TH, D2 and D4) in two multiple affected schizophrenic families. There was no linkage among any of three genes and schizophrenia. The maximum lod score (Z = 0.43, theta = 0.10 penetrance 100%) was for the tyrosine hydroxylase gene. Linkage analysis significantly excluded the D2 receptor gene (Z = 5.6, theta = 0.01), assuming an autosomal dominant pattern and complete penetrance, However, when the lod scores were calculated with other penetrance values, they lost significance.
本研究报告了一项针对精神分裂症患者和非精神分裂症受试者的多巴胺能系统基因(酪氨酸羟化酶(TH)、D2和D4受体)等位基因的关联研究。使用基于聚合酶链反应(PCR)的CA重复多态性对基因型进行分型。所研究的等位基因与精神分裂症之间无显著关联。此外,在两个多名成员患精神分裂症的家庭中,使用相同的基因(TH、D2和D4)进行了连锁分析。三个基因中的任何一个与精神分裂症之间均无连锁关系。酪氨酸羟化酶基因的最大对数优势分数(Z = 0.43,θ = 0.10,外显率100%)。假设为常染色体显性模式和完全外显率,连锁分析显著排除了D2受体基因(Z = 5.6,θ = 0.01),然而,当用其他外显率值计算对数优势分数时,它们失去了显著性。