| 抗凝血酶基因A9850G突变导致一个新的遗传性抗凝血酶缺陷症家系 |
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| 引用本文： | 杨芳,王冠军,李薇,王学锋,丁秋兰,王鸿利. 抗凝血酶基因A9850G突变导致一个新的遗传性抗凝血酶缺陷症家系[J]. 上海医学检验杂志, 2006, 0(1) |
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| 作者姓名： | 杨芳 王冠军 李薇 王学锋 丁秋兰 王鸿利 |
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| 作者单位： | 吉林大学第一医院 吉林长春130021(杨芳，王冠军，李薇)，上海交通大学医学院附属瑞金医院 上海200052(王学锋，丁秋兰，王鸿利) |
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| 摘 要： | 目的对一个遗传性抗凝血酶(AT)缺陷症家系进行临床表型诊断和基因突变检测。方法用AT活性(AT:A)和抗原含量(AT:Ag)作实验诊断;用聚合酶链反应(PCR)对先证者AT基因的7个外显子及其侧翼内含子序列进行扩增,PCR产物纯化后直接测序,检测其基因突变(H is369Arg),为国际首次报道。结果先证者表现为AT基因外显子5区的第9850位有A→G的杂合突变。结论该突变是遗传性AT缺陷症的一个新的突变位点,可以导致血栓形成。
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| 关 键 词： | 抗凝血酶 基因 突变 血栓 |
A new family of antithrombin deficiency due to A9850G mutation in antithrombin gene |
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| YANG Fang,WANG Guanjun,LI Wei,WANG Xuefeng,DING Qiulan,WANG Hongli. A new family of antithrombin deficiency due to A9850G mutation in antithrombin gene[J]. Shanghai Journal of Medical Laboratory Sciences, 2006, 0(1) |
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| Authors: | YANG Fang WANG Guanjun LI Wei WANG Xuefeng DING Qiulan WANG Hongli |
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| Affiliation: | YANG Fang,WANG Guanjun,LI Wei,WANG Xuefeng,DING Qiulan,WANG Hongli. The First Hospital of Jilin University,Jilin Changchun 130021,China |
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| Abstract: | Objective To identify the clinical phenotypic and gene mutation of a kindred with antithrombin(AT) deficiency. Methods Experimental diagnosis by AT:A and AT:Ag;All of the seven exons and intron-exon boundaries of AT gene were analysed by polymerase chain reaction(PCR) and direct sequencing of amplified PCR products from the propositus. Results A9850G(His369Arg) heterotic mutation in exon 5 was characterized in propositus,first time reported in the world. Conclusions This is a novel mutation,which can cause AT deficiency and thrombosis. |
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| Keywords: | Antithrombin Gene Mutation Thrombus |
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