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dc.contributor.authorBagislar, S.en_US
dc.contributor.authorUstuner, I.en_US
dc.contributor.authorCengiz, B.en_US
dc.contributor.authorSoylemez, F.en_US
dc.contributor.authorAkyerli, C. B.en_US
dc.contributor.authorCeylaner, S.en_US
dc.contributor.authorCeylaner, G.en_US
dc.contributor.authorAcar, A.en_US
dc.contributor.authorOzcelik, T.en_US
dc.date.accessioned2016-02-08T10:17:58Z
dc.date.available2016-02-08T10:17:58Z
dc.date.issued2006en_US
dc.identifier.issn0004-8666
dc.identifier.urihttp://hdl.handle.net/11693/23708
dc.description.abstractBackground: The role of extremely skewed X-chromosome inactivation (XCI) has been questioned in the pathogenesis of recurrent spontaneous abortion (RSA) but the results obtained were conflicting. Aims: We therefore investigated the XCI patterns in peripheral blood DNA obtained from 80 patients who had RSA and 160 age-matched controls. Methods: Pregnancy history, age, karyotype, and disease information was collected from all subjects. The methylation status of a highly polymorphic cytosine-adenine-guanine repeat in the androgen-receptor (AR) gene was determined by use of methylation-sensitive restriction enzyme HpaII and polymerase chain reaction. Results: Skewed XCI (> 8 5% skewing) was observed in 13 of the 62 patients informative for the AR polymorphism (20.9%), and eight of the 124 informative controls (6.4%) (P = 0.0069; χ 2 test). More importantly, extremely skewed XCI, defined as > 90% inactivation of one allele, was present in 11 (17.7%) patients, and in only two controls (P = 0.0002; χ 2 test). Conclusions: These results support the interpretation that disturbances in XCI mosaicism may be involved in the pathogenesis of RSA.en_US
dc.language.isoEnglishen_US
dc.source.titleAustralian and New Zealand Journal of Obstetrics and Gynaecologyen_US
dc.relation.isversionofhttp://dx.doi.org/10.1111/j.1479-828X.2006.00622.xen_US
dc.subjectAndrogen receptoren_US
dc.subjectMosaicismen_US
dc.subjectMutationen_US
dc.subjectRecurrent abortionen_US
dc.subjectX-chromosome inactivationen_US
dc.subjectAndrogen receptoren_US
dc.subjectDNAen_US
dc.subjectAdulten_US
dc.subjectAlleleen_US
dc.subjectArticleen_US
dc.subjectControlled studyen_US
dc.subjectFemaleen_US
dc.subjectGene mutationen_US
dc.subjectGenetic analysisen_US
dc.subjectGenetic polymorphismen_US
dc.subjectGenetic susceptibilityen_US
dc.subjectHumanen_US
dc.subjectKaryotypeen_US
dc.subjectMajor clinical studyen_US
dc.subjectPathogenesisen_US
dc.subjectPolymerase chain reactionen_US
dc.subjectPriority journalen_US
dc.subjectProtein methylationen_US
dc.subjectReceptor geneen_US
dc.subjectRecurrent abortionen_US
dc.subjectRisk factoren_US
dc.subjectSex chromosome mosaicismen_US
dc.subjectSpontaneous abortionen_US
dc.subjectStatistical analysisen_US
dc.subjectTrinucleotide repeaten_US
dc.subjectX chromosome inactivationen_US
dc.subjectAbortion, Habitualen_US
dc.subjectAllelesen_US
dc.subjectDNAen_US
dc.subjectDNA Methylationen_US
dc.subjectHumansen_US
dc.subjectMosaicismen_US
dc.subjectPolymorphism, Geneticen_US
dc.subjectPregnancyen_US
dc.subjectReceptors, Androgenen_US
dc.subjectX Chromosome Inactivationen_US
dc.titleExtremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortionen_US
dc.typeArticleen_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.citation.spage384en_US
dc.citation.epage387en_US
dc.citation.volumeNumber46en_US
dc.citation.issueNumber5en_US
dc.identifier.doi10.1111/j.1479-828X.2006.00622.xen_US
dc.publisherWiley-Blackwell Publishing Asiaen_US


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