Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion

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Bagislar S., Ustuner I., Cengiz B., Soylemez F., Akyerli C. B. , CEYLANER S. , ...More

Australian and New Zealand Journal of Obstetrics and Gynaecology, vol.46, no.5, pp.384-387, 2006 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 46 Issue: 5
  • Publication Date: 2006
  • Doi Number: 10.1111/j.1479-828x.2006.00622.x
  • Title of Journal : Australian and New Zealand Journal of Obstetrics and Gynaecology
  • Page Numbers: pp.384-387
  • Keywords: androgen receptor, mosaicism, mutation, recurrent abortion, X-chromosome inactivation, GENE, MUTATION, DNA


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 (> 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; χ2 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; χ2 test). Conclusions: These results support the interpretation that disturbances in XCI mosaicism may be involved in the pathogenesis of RSA. © 2006 The Authors Journal compilation © 2006 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.