基因异质性可能解释遗传性凝血因子VII缺乏症的表型变异。

Genotypic heterogeneity may explain phenotypic variations in inherited factor VII deficiency.

作者信息

Giansily-Blaizot Muriel, Aguilar-Martinez Patricia, Schved Jean-François

出版信息

Haematologica. 2002 Mar;87(3):328-9.

Abstract

Inherited factor VIl (FVII) deficiency is a rare autosomal recessive coagulation disorder characterized by a wide genet-ic heterogeneity and a poor relationship between FVII activity (FVII:C) levels and severity of the hemorrhagic diathesis. Given both the rarity and the heterogeneity of this disorder,genotype-phenotype relationships are difficult to clarify. The analysis of three FVII-deficient patients enabled us to offer some explanations.

摘要

遗传性因子Ⅶ（FⅦ）缺乏症是一种罕见的常染色体隐性凝血障碍，其特点是基因高度异质性，且FⅦ活性（FⅦ：C）水平与出血素质的严重程度之间关系不佳。鉴于这种疾病的罕见性和异质性，基因型与表型的关系难以阐明。对三名FⅦ缺乏症患者的分析使我们能够提供一些解释。