Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion |
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Authors: | Bagislar Sevgi Ustuner Isik Cengiz Bora Soylemez Feride Akyerli Cemaliye Boylu Ceylaner Serdar Ceylaner Gulay Acar Aynur Ozcelik Tayfun |
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Institution: | Department of Molecular Biology and Genetics, Faculty of Science, Bilkent University, Ankara, Turkey. |
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Abstract: | BACKGROUND: 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; chi2 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; chi2 test). CONCLUSIONS: These results support the interpretation that disturbances in XCI mosaicism may be involved in the pathogenesis of RSA. |
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Keywords: | androgen receptor mosaicism mutation recurrent abortion X-chromosome inactivation |
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