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首页> 中文期刊> 《血栓与止血学》 >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

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

         
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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.%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( SERPINCI) 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 mutations which found in proband was amplified from the DNA of family members and 100 healthy individuals and sequenced for pedigree analysis and polymorphism exclusion, respectively. Results The plasma levels of AT : Ag and AT:A of the proband were 114 mg/L and 54. 8％ , respectively. Two heterozygous missense mutations in exon 2 of AT gene (c. 134G ＞ A and c. 342T ＞ G) were found in the proband and some of his family members but were not found in 100 healthy individuals. Pedigree analyzed results revealed that the two mutations inherited from one allele. Conclusion The compound heterozygous mutations from one allele was the molecular mechanism of this pedigree with Type Ⅰ inherited antithrombin defiaency.

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  • 来源
    《血栓与止血学》 |2011年第2期|53-56|共4页
  • 作者

    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

    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;

    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仁济医院,血管外科,上海,200127;

    上海交通大学医学院附属仁济医院,血管外科,上海,200127;

    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;

    上海交通大学医学院附属瑞金医院输血科,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;

  • 原文格式 PDF
  • 正文语种 chi
  • 中图分类 染色体病;
  • 关键词

    抗凝血酶缺陷症; 基因; 突变;

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