| 孤独症儿童脆性位点精神发育迟滞1基因检测 |
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| 引用本文： | 周家秀,郭兰婷,王英成,季卫东,吴康敏,张芳蓉,黄晓琦,郭田友,杨闯.孤独症儿童脆性位点精神发育迟滞1基因检测[J].实用儿科临床杂志,2006,21(20):1415-1416. |
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| 作者姓名： | 周家秀 郭兰婷 王英成 季卫东 吴康敏 张芳蓉 黄晓琦 郭田友 杨闯 |
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| 作者单位： | 1. 深圳市儿童医院,儿童保健科,广东,深圳,518026
2. 四川大学华西医院,心理卫生中心,成都,610041 |
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| 摘 要： | 目的对孤独症儿童进行脆性位点精神发育迟滞1(FMR-1)基因检测,探讨儿童孤独症与FMR-1基因的关系。方法孤独症患儿75例。用一般情况调查表进行调查,以儿童孤独症评定量表、孤独症行为检查量表筛查可疑患儿,按照中国精神障碍分类与诊断标准第3版(CCMD-3)的儿童孤独症诊断标准进行诊断和FMR-1基因检测。结果孤独症患儿FMR-1基因异常率极低,仅1.3%。结论儿童孤独症遗传学发病机制可能与FMR-1基因无关。
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| 关 键 词： | 孤独症 儿童 聚合酶链式反应 基因 脆性位点精神发育迟滞1 |
| 文章编号： | 1003-515X(2006)20-1415-02 |
| 收稿时间： | 2006-09-15 |
| 修稿时间： | 2006年9月15日 |
Detection of Friagile X Mental Ratardation 1 Gene in Children with Autistic Disorder |
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| ZHOU Jia-xiu,GUO Lan-ting,WANG Ying-cheng,JI Wei-dong,WU Kang-min,ZHANG Fang-rong,HUANG Xiao-qi,GUO Tian-you,YANG Chuang.Detection of Friagile X Mental Ratardation 1 Gene in Children with Autistic Disorder[J].Journal of Applied Clinical Pediatrics,2006,21(20):1415-1416. |
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| Authors: | ZHOU Jia-xiu GUO Lan-ting WANG Ying-cheng JI Wei-dong WU Kang-min ZHANG Fang-rong HUANG Xiao-qi GUO Tian-you YANG Chuang |
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| Abstract: | Objective To explore the relationship between autistic disorder and friagile X mental ratardation 1(FMR-1) gene by detecting FMR-1 gene in children.Methods Using children-oriented questionnaire to investigate,then using child autism rating scale(CARS),autism behavior checklist(ABC) screen out dubious patient of autistic,finally to ensure the diagnosis of children with autistic disorder was based on CCMD-3 criteria.Seventy-five outpatients were recruited from mental health center of Westchina hospital affilia-ted to Sichuan university.FMR-1 gene was detected in autistic children.Result The abnormal frequency of FMR-1 gene was very low(1.3%) in children with autistic disorder.Conclusion There may be no correlative relationship between genetic pathogenesis of autistic disorder and FMR-1 gene. |
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| Keywords: | autistic disorder child polymerase chain reaction gene fragile X mental retardation 1 |
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