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dc.creatorAzofeifa Navas, Jorge
dc.creatorVoit, Thomas
dc.creatorHübner, Christoph
dc.creatorCremer, Marion
dc.date.accessioned2015-07-09T20:39:49Z
dc.date.available2015-07-09T20:39:49Z
dc.date.issued1995
dc.identifier.citationhttp://link.springer.com/article/10.1007%2FBF00207374es_ES
dc.identifier.issn0340-6717
dc.identifier.issn1432-1203
dc.identifier.urihttp://hdl.handle.net/10669/15073
dc.descriptionArtículo científico -- Universidad de Costa Rica, Instituto de Investigaciones en Salud. 1995. Este documento es privado debido a limitaciones de derechos de autor.es_ES
dc.description.abstractThe X-chromosome activity states of 11 manifesting carriers of dystrophinopathies, all with normal karyotypes, were estimated by restriction fragment length polymorphism (RFLP)-methylation analysis with the probes M27I3 (DXS255), p2-19(DXS605) and pSPT/PGK (PGK1) to test the role of skewed X-inactivation ratios as the cause of their affected phenotypes. In eight cases preferential inactivation of the putative X chromosome carrying the normal dystrophin allele in 90% of their peripheral lymphocytes was observed, two cases showed non-appparent deviant ratios (60:40 and 70:30) from the theoretically expected values around the mean of 50% and in one case the three markers employed yielded no information. The analysis of the X-inactivation ratio in six mother-daughter pairs, all non-manifesting Duchenne muscular dystrophy (DMD) carriers, and in the close female relatives of the patients showed: (a) neither of the two X chromosomes was preferentially inactivated with respect to their parental origin; (b) a high concordance among the activation ratios of mothers and daughters, a result difficult to explain just in terms of random X-chromosome inactivation.es_ES
dc.description.sponsorshipUniversidad de Costa Rica. Instituto de Investigación en Salud.es_ES
dc.language.isoen_USes_ES
dc.sourceHuman Genetic 96(2):167-176es_ES
dc.subjectDuchenne muscular dystrophyes_ES
dc.subjectpolimorfismo genéticoes_ES
dc.subjectGenética humanaes_ES
dc.titleX-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypeses_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.typeArtículo científicoes_ES
dc.identifier.doi10.1007/BF00207374
dc.description.procedenceUCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias de la Salud::Instituto de Investigaciones en Salud (INISA)es_ES


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