Extremely Skewed X-Chromosome Inactivation Patterns in Women With Recurrent Spontaneous Abortion

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dc.contributor.authorBağışlar, Sevgi
dc.contributor.authorÜstüner, Işık
dc.contributor.authorCengiz, Bora
dc.contributor.authorSöylemez, Feride
dc.contributor.authorAkyerli, Cemaliye Boylu
dc.contributor.authorCeylaner, Serdar
dc.contributor.authorCeylaner, Gülay
dc.contributor.authorAcar, Aynur
dc.contributor.authorÖzçelik, Tayfun
dc.date.accessioned2020-03-26T17:03:33Z
dc.date.available2020-03-26T17:03:33Z
dc.date.issued2006
dc.departmentSelçuk Üniversitesien_US
dc.descriptionEuropean Human Genetics Conference -- JUN 12-15, 2004 -- Munich, GERMANYen_US
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 (> 85% 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; chi(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; chi(2) test). Conclusions: These results support the interpretation that disturbances in XCI mosaicism may be involved in the pathogenesis of RSA.en_US
dc.identifier.citationBağışlar, S., Üstüner, I., Cengiz, B., Söylemez, F., Akyerli, C. B., Ceylaner, S., Ceylaner, G., Acar, A., Özçelik, T., (2006). Extremely Skewed X-Chromosome Inactivation Patterns in Women With Recurrent Spontaneous Abortion. Australian & New Zealand Journal of Obstetrics & Gynaecology, 46(5), 348-387. Doi: 10.1111/j.1479-828X.2006.00622.x
dc.identifier.doi10.1111/j.1479-828X.2006.00622.xen_US
dc.identifier.endpage387en_US
dc.identifier.issn0004-8666en_US
dc.identifier.issue5en_US
dc.identifier.pmid16953851en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage384en_US
dc.identifier.urihttps://dx.doi.org/10.1111/j.1479-828X.2006.00622.x
dc.identifier.urihttps://hdl.handle.net/20.500.12395/20491
dc.identifier.volume46en_US
dc.identifier.wosWOS:000240034400006en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorAcar, Aynur
dc.language.isoenen_US
dc.publisherBlackwell Publishingen_US
dc.relation.ispartofAustralian & New Zealand Journal of Obstetrics & Gynaecologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectandrogen receptoren_US
dc.subjectmosaicismen_US
dc.subjectmutationen_US
dc.subjectrecurrent abortionen_US
dc.subjectX-chromosome inactivationen_US
dc.titleExtremely Skewed X-Chromosome Inactivation Patterns in Women With Recurrent Spontaneous Abortionen_US
dc.typeArticleen_US

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