目的·探讨双相障碍患者攻击行为与多巴胺D4受体(dopamine D4 receptor,DRD4)基因第3外显子(exonⅢ)48 bp可变数目串联重复序列(variable number tandem repeat,VNTR)多态性及人格特征之间的关系。方法·选取2015年1月-2018年1...目的·探讨双相障碍患者攻击行为与多巴胺D4受体(dopamine D4 receptor,DRD4)基因第3外显子(exonⅢ)48 bp可变数目串联重复序列(variable number tandem repeat,VNTR)多态性及人格特征之间的关系。方法·选取2015年1月-2018年12月在上海市长宁区精神卫生中心、上海市静安区精神卫生中心、上海市徐汇区精神卫生中心和上海健康医学院附属嘉定区中心医院就诊的双相障碍患者共173例,根据修订版外显攻击行为量表(Modified Overt Aggression Scale,MOAS)评分将其分为攻击组(研究组)和非攻击组(对照组)。分别进行一般情况调查、气质性格问卷(Temperature and Character Inventory,TCI)测定;采用聚合酶链反应-限制性片断长度多态性技术检测DRD4 exonⅢ48 bp VNTR多态性位点。用SHEsis软件进行基因型Hardy-Weinberg遗传平衡度检验及组间基因型频率的差异分析,用χ~2检验和t检验分析双相障碍患者攻击行为与DRD4基因多态性及人格特征之间的关系。结果·研究组和对照组一般情况调查结果间差异无统计学意义(P>0.05)。共检测到DRD4 exonⅢ48 bp VNTR的6种等位基因和9种基因型,2组最常见的是4次重复等位基因。2组间DRD4基因的基因型及等位基因的频率分布差异有统计学意义(P=0.040,P=0.018)。研究组寻求新奇、伤害避免维度评分高于对照组(P=0.026,P=0.000),合作性、自我定向维度评分低于对照组(均P=0.000)。研究组携带长重复等位基因的患者寻求新奇、伤害避免维度评分高于携带短重复等位基因的患者(P=0.000,P=0.006),合作性维度评分低于携带短重复等位基因的患者(P=0.038)。结论·双相障碍患者攻击行为与DRD4 exonⅢ48 bp VNTR之间可能存在关联。双相障碍攻击行为患者具有冲动、寻求刺激、探索、害怕不确定、报复心强、自私自利等人格特征,携带长重复等位基因患者人格异常更显著。展开更多
Although population genetic theory is largely based on the premise that loci under study are selectively neutral, it has been acknowledged that the study of DNA sequence data under the influence of selection can be us...Although population genetic theory is largely based on the premise that loci under study are selectively neutral, it has been acknowledged that the study of DNA sequence data under the influence of selection can be useful. In some circumstances, these loci show increased population differentiation and gene diversity. Highly polymorphic loci may be especially useful when studying populations having low levels of diversity overall, such as is often the case with threatened or newly established inva- sive populations. Using common starlings Sturnus vulgaris sampled from invasive Australian populations, we investigated se- quence data of the dopamine receptor D4 gene （DRD4）, a locus suspected to be under selection for novelty-seeking behaviour in a range of taxa including humans and passerine birds. We hypothesised that such behaviour may be advantageous when species encounter novel environments, such as during invasion. In addition to analyses to detect the presence of selection, we also esti- mated population differentiation and gene diversity using DRD4 data and compared these estimates to those from microsatellite and mitochondrial DNA sequence data, using the same individuals. We found little evidence for selection on DRD4 in starlings. However, we did find elevated levels of within-population gene diversity when compared to microsatellites and mitochondrial DNA sequence, as well as a greater degree of population differentiation. We suggest that sequence data from putatively non- neutral loci are a useful addition to studies of invasive populations, where low genetic variability is expected展开更多
文摘目的·探讨双相障碍患者攻击行为与多巴胺D4受体(dopamine D4 receptor,DRD4)基因第3外显子(exonⅢ)48 bp可变数目串联重复序列(variable number tandem repeat,VNTR)多态性及人格特征之间的关系。方法·选取2015年1月-2018年12月在上海市长宁区精神卫生中心、上海市静安区精神卫生中心、上海市徐汇区精神卫生中心和上海健康医学院附属嘉定区中心医院就诊的双相障碍患者共173例,根据修订版外显攻击行为量表(Modified Overt Aggression Scale,MOAS)评分将其分为攻击组(研究组)和非攻击组(对照组)。分别进行一般情况调查、气质性格问卷(Temperature and Character Inventory,TCI)测定;采用聚合酶链反应-限制性片断长度多态性技术检测DRD4 exonⅢ48 bp VNTR多态性位点。用SHEsis软件进行基因型Hardy-Weinberg遗传平衡度检验及组间基因型频率的差异分析,用χ~2检验和t检验分析双相障碍患者攻击行为与DRD4基因多态性及人格特征之间的关系。结果·研究组和对照组一般情况调查结果间差异无统计学意义(P>0.05)。共检测到DRD4 exonⅢ48 bp VNTR的6种等位基因和9种基因型,2组最常见的是4次重复等位基因。2组间DRD4基因的基因型及等位基因的频率分布差异有统计学意义(P=0.040,P=0.018)。研究组寻求新奇、伤害避免维度评分高于对照组(P=0.026,P=0.000),合作性、自我定向维度评分低于对照组(均P=0.000)。研究组携带长重复等位基因的患者寻求新奇、伤害避免维度评分高于携带短重复等位基因的患者(P=0.000,P=0.006),合作性维度评分低于携带短重复等位基因的患者(P=0.038)。结论·双相障碍患者攻击行为与DRD4 exonⅢ48 bp VNTR之间可能存在关联。双相障碍攻击行为患者具有冲动、寻求刺激、探索、害怕不确定、报复心强、自私自利等人格特征,携带长重复等位基因患者人格异常更显著。
文摘Although population genetic theory is largely based on the premise that loci under study are selectively neutral, it has been acknowledged that the study of DNA sequence data under the influence of selection can be useful. In some circumstances, these loci show increased population differentiation and gene diversity. Highly polymorphic loci may be especially useful when studying populations having low levels of diversity overall, such as is often the case with threatened or newly established inva- sive populations. Using common starlings Sturnus vulgaris sampled from invasive Australian populations, we investigated se- quence data of the dopamine receptor D4 gene （DRD4）, a locus suspected to be under selection for novelty-seeking behaviour in a range of taxa including humans and passerine birds. We hypothesised that such behaviour may be advantageous when species encounter novel environments, such as during invasion. In addition to analyses to detect the presence of selection, we also esti- mated population differentiation and gene diversity using DRD4 data and compared these estimates to those from microsatellite and mitochondrial DNA sequence data, using the same individuals. We found little evidence for selection on DRD4 in starlings. However, we did find elevated levels of within-population gene diversity when compared to microsatellites and mitochondrial DNA sequence, as well as a greater degree of population differentiation. We suggest that sequence data from putatively non- neutral loci are a useful addition to studies of invasive populations, where low genetic variability is expected
