[一种新型蛋白C基因突变导致的I型蛋白C缺乏症]
[Type I protein C deficiency caused by a novel protein C gene mutation].
作者信息
Zheng Y, Zhu D, Zhou B
机构信息
Research Center of Molecular Biology, Hunan Medical University, Changsha 410078.
出版信息
Zhonghua Xue Ye Xue Za Zhi. 1998 Mar;19(3):138-42.
OBJECTIVE
To study the phenotype and genotype of a thrombophilia family.
METHODS
Antigens and activities of protein C, antithrombin III, protein S, plasminogen and activated protein C resistance were assayed in 13 members from four generations of the family.
RESULTS
Type I protein C deficiency was revealed in 5 members including the 3 members with deep vein thrombosis. All the exons and intron/exon junctions of the protein C gene were amplified by PCR. No abnormal band was found in SSCP assay. DNA sequencing identified a novel mutation 3444C-->A in exon VI of protein C gene leading to His134Asn. This mutation erased a Hph I site. PCR/Hph I analysis demonstrated that 6 members including 5 protein C deficiency members had the same mutations.
CONCLUSION
His134Asn is a novel mutation causing type I protein C deficiency.
目的
研究一个血栓形成倾向家族的表型和基因型。
方法
对该家族四代中的13名成员进行蛋白C、抗凝血酶III、蛋白S、纤溶酶原抗原及活性以及活化蛋白C抵抗检测。
结果
在5名成员中发现I型蛋白C缺乏，其中3名患有深静脉血栓形成。通过聚合酶链反应（PCR）扩增蛋白C基因的所有外显子及内含子/外显子连接区。在单链构象多态性分析（SSCP）中未发现异常条带。DNA测序鉴定出蛋白C基因外显子VI中的一个新突变3444C→A，导致His134Asn。该突变消除了一个Hph I酶切位点。PCR/Hph I分析表明，包括5名蛋白C缺乏成员在内的6名成员具有相同突变。
结论
His134Asn是导致I型蛋白C缺乏的一个新突变。
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