| 3个遗传性抗凝血酶缺陷症家系的表型和基因型关系的研究 |
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| 引用本文： | 欧阳琦,丁秋兰,许冠群,张利伟,戴菁,陆晔玲,王学锋,奚晓东,王鸿利.3个遗传性抗凝血酶缺陷症家系的表型和基因型关系的研究[J].中国输血杂志,2011,24(5):362-367. |
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| 作者姓名： | 欧阳琦 丁秋兰 许冠群 张利伟 戴菁 陆晔玲 王学锋 奚晓东 王鸿利 |
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| 作者单位： | 1. 上海交通大学,医学院附属瑞金医院,上海血液学研究所,基因组学国家重点实验室,上海200025
2. 上海交通大学,医学院附属瑞金医院,临床输血科,上海200025 |
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| 摘 要： | 目的探讨遗传性抗凝血酶缺陷症家系表型和和基因型的关系。方法对3个遗传性抗凝血酶缺陷症家系(家系1~3)作表型和基因型诊断:常规检测活化部分凝血活酶时间(APTT)、凝血酶原时间(PT)、纤维蛋白原(Fg)、凝血酶时间(TT)以筛查凝血功能,发色底物法检测蛋白C、蛋白S和抗凝血酶活性(PC∶A,PS∶A及AT∶A),免疫比浊法检测抗凝血酶抗原(AT∶Ag),Western blot检测血浆中抗凝血酶的分子量和含量;PCR扩增AT基因所有外显子及侧翼序列,DNA测序并进行基因分析。针对新基因突变,在100例正常人中检测相应突变以排除多态性,用TA克隆PCR产物测序鉴定杂合碱基缺失突变。结果 3名先证者均为反复发作的静脉血栓患者,凝血指标及PC∶A和PS∶A都正常,AT∶A分别为正常人(100%)的60%、52%和60%,AT∶Ag分别为16.9、14.1和11.4 mg/dl,Western blot显示3位先证者的血浆AT蛋白分子量正常(58 kD)而含量低于正常;基因分析发现3名先证者各携带1个杂合突变,分别为g.8263 C>T(Leu340Phe)、g.5894-6 del TTC(Phe122del)和g.5898 T>G(Phe123Cys)。3个家系中与先证者表型相似的成员,则携带有相同的AT基因突变;但除家系2先证者的父亲有静脉血栓外,家系1和3中含有相应AT基因突变的家庭成员均无血栓发生。结论 3名先证者遗传性抗凝血酶缺陷症分别由Leu340Phe、Phe122del和Phe123Cys突变所致,其中Leu340Phe和Phe123Cys突变为国际上首次报道。
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| 关 键 词： | 抗凝血酶缺陷症 遗传性 抗凝血酶 AT基因 突变 表型 基因型 静脉血栓 |
Study on the relationship between phenotypes and genotypes in three Chinese pedigrees with inherited antithrombin deficiency |
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| OUYANG Qi,DING Qiulan,XU Guanqun,et al..Study on the relationship between phenotypes and genotypes in three Chinese pedigrees with inherited antithrombin deficiency[J].Chinese Journal of Blood Transfusion,2011,24(5):362-367. |
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| Authors: | OUYANG Qi DING Qiulan XU Guanqun |
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| Institution: | OUYANG Qi1,DING Qiulan2,XU Guanqun2,et al.1.State Key Laboratory for Medical Genomics,Shanghai Institute of Hematology,2.Department of Transfusion,Ruijin Hospital Affiliated to School of Medicine,Shanghai Jiao Tong University,Shanghai 200025,China |
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| Abstract: | Objective To investigate the relationship between phenotypes and genotypes in three Chinese pedigrees with inherited antithrombin deficiency.Methods The routine coagulation tests including activated partial thromboplastin time(APTT),prothrombin time(PT),fibrinogen(Fg) and thrombin time(TT) were performed.The activities of protein C(PC:A),protein S(PS:A),and antithrombin(AT:A) were tested with chromogenic substrate assay.The antigen of AT(AT:Ag) was tested with immunoturbidimetry methods.The molecular weight... |
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| Keywords: | Inherited antithrombin deficiency Antithrombin AT gene Gene mutation Phenotype Genotype Venous thrombosis |
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