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目的 :探讨儿茶酚 -O -甲基转移酶 (COMT)第 15 8位密码子从缬氨酸到蛋氨酸的错义突变(Val15 8Met)多态性与精神分裂症的关系。方法 :在 42个至少包含 2名符合ICD -10精神分裂症诊断标准的患病同胞、父母存活的汉族家系中 ,对COMTVal15 8Met多态标记进行检测。结果 :1)COMT等位基因频度和基因型频度在父母组、非患病同胞组和患病同胞组之间无差异 ,在三组男女性别之间以及在精神分裂症不同亚型之间基因型频度和等位基因频度的分布也没有统计学意义的差异。 2 )传递不平衡性检验在患病同胞中无统计学差异 ,但发现有较多的高活性Val15 8COMT传递给非患病同胞 (P =0 0 14 )。 3)基因型与妄想、瓦解行为、思维形式障碍、情感障碍、人格解体和易激惹等临床特征相关。结论 :1)高活性COMTVal15 8等位基因或其附近与之连锁的其它基因对精神分裂症可能具有保护作用。 2 )对于本研究中的汉族精神分裂症来说 ,尚不能确定COMTVal15 8Met多态性与精神分裂症有关联 /连锁 ,但不能排除它在精神分裂症临床症状中的作用以及与精神分裂症亚型关联或连锁的可能性
Aims: To investigate the association of Val158Met polymorphism with valine to methionine codon 158 of schizophrenia in Catechol - O - methyltransferase (COMT). METHODS: The COMTVal15 8Met polymorphism marker was detected in 42 atypical Chinese siblings with at least two ICD -10 diagnostic criteria for schizophrenia and their parents survived. Results: 1) The frequencies of COMT alleles and genotypes were not different between the three groups of men and women and among different subtypes of schizophrenia There were also no statistically significant differences in the distribution of inter genotype frequency and allele frequency. 2) There was no significant difference in transmission disequilibrium test between the affected siblings, but more highly active Val15 8COMT was found to be transmitted to non-affected siblings (P = 0.014). 3) Genotypes were associated with clinical features such as delusional behavior, disorganization behavior, thought-form disorder, affective disorder, personality breakdown and irritability. Conclusions: 1) Other genes linked to the highly active COMTVal 15 8 allele may have protective effects on schizophrenia. 2) For the Han schizophrenia in this study, it is not yet known that the COMTVal 15 8Met polymorphism is associated with / associated with schizophrenia, but its role in clinical symptoms of schizophrenia and its association with schizophrenia Type of association or chain of possibilities