title: [Assessing the inactivation pattern in chromosome X among symptomatic carriers and women with haemophilia].
abstract: X chromosome inactivation is a stochastic event that occurs early in female embryo development to achieve dosage compensation with males. Certain genetic mechanisms affect the normal process causing a skewed X inactivation pattern which has clinical relevance in female carriers of X-linked recessive disorders, like haemophilia. The most commonly used assay to evaluate the X inactivation pattern is the PCR amplification of the human androgen receptor gene (HUMARA). The use of this technique in bleeding carriers and women with haemophilia allows identifying if their hemorrhagic symptoms are due to an unfavourable lyonization. Furthermore, these studies are important for understanding the X chromosome inactivation process in humans.
authors.affiliation: Universidad de las Américas, Puebla, Puebla, México. jessica_mundo@hotmail.com
authors.forename: Jessica Noemi
authors.initials: JN
authors.lastname: Mundo-Ayala
authors.forename: Ana Rebeca
authors.initials: AR
authors.lastname: Jaloma-Cruz
mesh_terms: D005260:Female; D005819:Genetic Markers; D006467:Hemophilia A / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D011944:Receptors, Androgen / Q000235:genetics; D049951:X Chromosome Inactivation
chemical_list: C410798:AR protein, human; D005819:Genetic Markers; D011944:Receptors, Androgen