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| 同一等位基因复合杂合突变导致Ⅰ型遗传性抗凝血酶缺陷症 | |
| 引用本文： | 顾怡,沈薇,张岚,张纪蔚,应春妹,郁婷婷,王学锋,傅启华. 同一等位基因复合杂合突变导致Ⅰ型遗传性抗凝血酶缺陷症[J]. 血栓与止血学, 2011, 17(2): 53-56 |
| 作者姓名： | 顾怡 沈薇 张岚 张纪蔚 应春妹 郁婷婷 王学锋 傅启华 |
| 作者单位： | 1. 上海交通大学医学院附属仁济医院,检验科,上海,200127;上海交通大学医学院附属上海儿童医学中心检验科,上海,200127 2. 上海交通大学医学院附属仁济医院,检验科,上海,200127 3. 上海交通大学医学院附属仁济医院,血管外科,上海,200127 4. 上海交通大学医学院附属上海儿童医学中心检验科,上海,200127 5. 上海交通大学医学院附属瑞金医院输血科,上海,200127 |
| 基金项目： | 仁济医院第四期学科建设资助项目 |
| 摘 要： | 目的对1例遗传性抗凝血酶（AT）缺陷症先证者及其家系进行表型诊断和基因诊断。方法采用免疫比浊法和发色底物法分别检测先证者及其家系成员的AT抗原（AT：Ag）和AT活性（AT：A）,抽提外周血基因组DNA,PCR扩增AT基因（SERPINC1）7个外显子及其侧翼序列,应用直接测序法对先证者进行AT基因序列分析。针对先证者中发现的突变位点,对其家系成员进行相应基因突变检测,同时在100例正常人中筛查以排除多态性。结果先证者AT：Ag和AT：A分别为114 mg/L和54.8%。其AT基因外显子2区发现了2个杂合点突变,分别为c.134G〉A和c.342T〉G。其家系部分成员检测到相应的杂合突变。家系遗传分析表明,2个杂合突变位于同一等位基因。结论同一等位基因复合杂合突变是导致该家系Ⅰ型遗传性AT缺陷症的分子原因。 |
| 关 键 词： | 抗凝血酶缺陷症 基因 突变 |
Compound Mutations in One Allele of AT Gene Causing Type I Inherited Antithrombin Deficiency |
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| GU Yi,SHEN Wei,ZHANG Lan,ZHANG Ji-wei,YING Chun-mei,YU Ting-ting,WANG Xue-feng,FU Qi-hua. Compound Mutations in One Allele of AT Gene Causing Type I Inherited Antithrombin Deficiency[J]. Chinese Journal of Thrombosis and Hemostasis, 2011, 17(2): 53-56 | |
| Authors: | GU Yi SHEN Wei ZHANG Lan ZHANG Ji-wei YING Chun-mei YU Ting-ting WANG Xue-feng FU Qi-hua |
| Affiliation: | GU Yi1,3,SHEN Wei1,ZHANG Lan2,ZHANG Ji-wei2,YING Chun-mei1,YU Ting-ting3,WANG Xue-feng4,FU Qi-hua3 (1.Department of Laboratory Medicine,2.Department of Vascular Surgery,Renji Hospital,Shanghai Jiaotong University College of Medicine,Shanghai,200127,China.3.Department of Laboratory Medicine,Shanghai Children's Medical Center,Shanghai Jiaotong University Colleg of Medicine,China,4.Department of Clinical Transfusion,Ruijin Hospital,20002... |
| Abstract: | Objective To investigate the clinical phenotype and gene mutation for a pedigree with inherited antithrombin(AT) deficiency.Methods Immunonephelometry and chromogenic assay were used for detecting plasma level of AT antigen(AT:Ag) and AT activity(AT:A),respectively.All of the seven exons and their intron-exon boundaries of AT gene(SERPINC1)were amplified by PCR using the DNA extracted from the proband's peripheral blood,and PCR products were analyzed by direct sequencing.The corresponding gene fragment with... |
| Keywords: | Antithrombin deficiency Gene Mutation |
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