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首页> 外文期刊>Psychiatric genetics >Mutation scanning of the androgen receptor gene in patients with psychiatric disorders reveals highly conserved variants in alcoholic and phobia patients.
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Mutation scanning of the androgen receptor gene in patients with psychiatric disorders reveals highly conserved variants in alcoholic and phobia patients.

机译:精神病患者中雄激素受体基因的突变扫描显示,酒精中毒和恐惧症患者中高度保守的变异体。

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摘要

Sex steroids exert potent effects on mood and mental state in humans. They may contribute to the risk of psychiatric disorders. To investigate this hypothesis, coding and splice junction sequences of the androgen receptor gene were scanned in genomic DNA samples to search for variants affecting protein structure and expression (VAPSEs). Ninety-six schizophrenics, along with pilot samples of patients with bipolar disorder, attention-deficit hyperactivity disorder, alcoholism and autism were analyzed with DOVAM-S, a robotically enhanced, optimized form of single-strand conformation polymorphism analysis. A total of 669 kb of genomic sequence was analyzed. Two VAPSEs were identified: R726L was found in one of 17 scanned alcoholics, and P516S, a novel VAPSE, was identified in one of three phobia patients. There were no length trends of the CAG triplets associated with schizophrenia. R726L and P516S occur at highly conserved amino acids. Further study is required to assess whether these VAPSEs contribute tothe risk of alcoholism or phobia or other diseases.
机译:性类固醇对人类的情绪和精神状态产生有效影响。它们可能会增加精神疾病的风险。为了研究该假设,在基因组DNA样品中扫描了雄激素受体基因的编码和剪接连接序列,以寻找影响蛋白质结构和表达(VAPSE)的变异体。使用自动增强的单链构象多态性分析形式DOVAM-S分析了96例精神分裂症患者以及双相情感障碍,注意力缺陷多动障碍,酒精中毒和自闭症患者的先导样本。分析了总共669 kb的基因组序列。确定了两个VAPSE:在17个扫描的酒精中毒者之一中发现了R726L,在三名恐怖症患者之一中发现了新型VAPSE P516S。与精神分裂症相关的CAG三联体没有长度趋势。 R726L和P516S存在于高度保守的氨基酸处。需要进一步研究以评估这些VAPSE是否会导致酗酒,恐惧症或其他疾病。

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