title: [Intragenic polymorphisms of factor VIII and IX genes and their utility in the indirect diagnosis of carriers of Haemophilias A and B].
abstract: 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.
authors.affiliation: Laboratorio de Genética Molecular, Unidad de Genética, Facultad de Medicina, Universidad del Zulia, Maracaibo, Venzuela. lisbethborjas@gmail.com
authors.forename: Lisbeth
authors.initials: L
authors.lastname: Borjas
authors.forename: William
authors.initials: W
authors.lastname: Zabala
authors.forename: Lennie
authors.initials: L
authors.lastname: Pineda
authors.forename: Tatiana
authors.initials: T
authors.lastname: Pardo
authors.forename: Erika
authors.initials: E
authors.lastname: Fernández
authors.forename: Mariana
authors.initials: M
authors.lastname: Zambrano
authors.forename: Jose M
authors.initials: JM
authors.lastname: Quintero
authors.forename: Melvis
authors.initials: M
authors.lastname: Arteaga-Vizcaíno
authors.forename: Alisandra
authors.initials: A
authors.lastname: Morales-Machín
authors.forename: Wilmer
authors.initials: W
authors.lastname: Delgado
mesh_terms: D005164:Factor IX / Q000235:genetics*; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics*; D002836:Hemophilia B / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D011110:Polymorphism, Genetic; D014687:Venezuela
chemical_list: D005169:Factor VIII; D005164:Factor IX