| 华中和华东地区肝豆状核变性患者ATP7B基因第13号外显子突变的研究 |
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| 引用本文： | 程楠,陆兵勋,杜益刚,王训,胡纪源,韩咏竹,潘速跃,杨任民. 华中和华东地区肝豆状核变性患者ATP7B基因第13号外显子突变的研究[J]. 临床神经病学杂志, 2010, 23(1) |
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| 作者姓名： | 程楠 陆兵勋 杜益刚 王训 胡纪源 韩咏竹 潘速跃 杨任民 |
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| 作者单位： | 1. 南方医科大学南方医院神经内科,广州,510515
2. 安徽中医学院神经病学研究所附属医院 |
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| 摘 要： | 目的 对华中和华东地区肝豆状核变性(HLD)患者ATP7B基因第13号外显子突变进行研究.方法 应用PCR-DNA测序技术对来自我国华中和华东地区的139例非同源家系的HLD患者的ATP7B基因第13号外显子进行检测,并与52名正常对照者进行比较.结果 正常对照组测序未见异常.HLD组共检出6种ATP7B基因的突变类型和1种多态,其中Gly988Val杂合突变为新的发现.HLD组突变及多态总的检出率为29.49%(41/139),染色体突变频率为15.83%(44/278);其中Pro992Leu纯合或杂合突变的检出率为23.02%(32/139),其染色体突变频率为12.59%(35/278).结论 ATP7B基因第13号外显子是华中和华东地区HLD患者的一个基因突变热区,是筛选HID可疑患者时优先检测的外显子之一.
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| 关 键 词： | 肝豆状核变性 基因突变 核酸序列分析 |
Investigation on the mutation of exon 13 of ATP7B gene in patients with hepatolenticular degeneration located in middle east of China |
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| CHENG Nan,LU Bing-xun,DU Yi-gang,et al. Investigation on the mutation of exon 13 of ATP7B gene in patients with hepatolenticular degeneration located in middle east of China[J]. Journal of Clinical Neurology, 2010, 23(1) |
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| Authors: | CHENG Nan LU Bing-xun DU Yi-gang et al |
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| Affiliation: | CHENG Nan,LU Bing-xun,DU Yi-gang,et al.Department of Neurology,Nanfang Hospital Affiliated to Southern Medical University,Guangzhou 510515,China |
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| Abstract: | Objective To investigate the mutation of exon 13 of ATP7B gene in patients with hepatolenticular degeneration(HLD)located in middle east of China.Methods Exon 13 of ATP7B gene in 139 not family HLD patients(HLD group)which came from middle east of China were detected by PCR-DNA sequencing.And the results were compared with 52 normal controls(NC group).Results No abnormality was found in NC group.6 mutations and 1 polymorphism were found in HLD group,and there was a novel mutation(Gly988Val).The total rate o... |
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| Keywords: | hepatolenticular degeneration gene mutation nucleotide sequence analysis |
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