三种导致蛋白C缺乏的新型凝血酶原（PROC）基因损伤。

Three novel PROC gene lesions causing protein C deficiency.

作者信息

Hallam P J, Mannucci P, Tripodi A, Bevan D, Laursen B, Tengborn L, Wacey A, Cooper D N

机构信息

Molecular Haematology Unit, St Bartholomew's and the Royal London School of Medicine and Dentistry, UK.

出版信息

Clin Genet. 1998 Sep;54(3):231-3. doi: 10.1111/j.1399-0004.1998.tb04290.x.

DOI:10.1111/j.1399-0004.1998.tb04290.x

PMID:9788727

Abstract

Missense mutations, three of them novel (Asn210-->Val, Asn248-->Ile, Ala355-->Val), were found in the protein C (PROC) genes of 7 patients with inherited protein C deficiency associated with venous thrombosis. Comparison with the phenotypic effects of mutations in the analogous residues of factor IX causing haemophilia B and the use of molecular modelling has provided explanations as to how these lesions might alter either the structure, function or secretion of the protein C molecules encoded.

摘要

在7例与静脉血栓形成相关的遗传性蛋白C缺乏症患者的蛋白C（PROC）基因中发现了错义突变，其中3种是新发现的（Asn210→Val、Asn248→Ile、Ala355→Val）。将这些突变与导致B型血友病的因子IX类似残基突变的表型效应进行比较，并使用分子建模，为这些损伤如何改变所编码的蛋白C分子的结构、功能或分泌提供了解释。