Bağışlar, SevgiÜstüner, IşıkCengiz, BoraSöylemez, FerideAkyerli, Cemaliye BoyluCeylaner, SerdarCeylaner, GülayAcar, AynurÖzçelik, Tayfun2020-03-262020-03-262006Bağışlar, 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.x0004-8666https://dx.doi.org/10.1111/j.1479-828X.2006.00622.xhttps://hdl.handle.net/20.500.12395/20491European Human Genetics Conference -- JUN 12-15, 2004 -- Munich, GERMANYBackground: 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.en10.1111/j.1479-828X.2006.00622.xinfo:eu-repo/semantics/openAccessandrogen receptormosaicismmutationrecurrent abortionX-chromosome inactivationArticle46538438716953851Q2WOS:000240034400006Q4