Borjas Lisbeth, Zabala William, Pineda Lennie, Pardo Tatiana, Fernández Erika, Zambrano Mariana, Quintero Jose M, Arteaga-Vizcaíno Melvis, Morales-Machín Alisandra, Delgado Wilmer
Laboratorio de Genética Molecular, Unidad de Genética, Facultad de Medicina, Universidad del Zulia, Maracaibo, Venzuela.
Invest Clin. 2010 Sep;51(3):391-401.
Haemophilia A and B are considered sex-linked inherited diseases caused by mutations in genes that encode factors VIII and IX, respectively. This results in the deficiency of these proteins plasma levels which are actively involved in the mechanism of blood coagulation. It has been reported that several mutations are responsible for the alteration of these genes, which is why the application of a molecular diagnostic method for the direct identification of female carriers is impractical. An appropriate diagnostic strategy is the indirect analysis of polymorphisms linked to the gene. The aim of this study was to identify female carriers in different families with history of HA and HB that live in Zulia State, Venezuela, characterizing intragenic gene polymorphisms of the clotting factors VIII and IX, which helped to identify and assign haplotypes, to diagnose or to exclude the carrying condition, to 95% of women who were needing the study for HA and to 100% for HB.
甲型和乙型血友病被认为是分别由编码凝血因子 VIII 和 IX 的基因突变引起的性连锁遗传病。这导致这些蛋白质的血浆水平缺乏，而这些蛋白质积极参与血液凝固机制。据报道，几种突变导致了这些基因的改变，这就是为什么应用分子诊断方法直接鉴定女性携带者是不切实际的。一种合适的诊断策略是对与该基因连锁的多态性进行间接分析。本研究的目的是在委内瑞拉苏利亚州有甲型和乙型血友病病史的不同家庭中识别女性携带者，对凝血因子 VIII 和 IX 的基因内基因多态性进行特征分析，这有助于识别和确定单倍型，以诊断或排除携带状态，对于 95% 需要进行甲型血友病研究的女性以及 100% 需要进行乙型血友病研究的女性来说都是如此。
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