Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion
Australian and New Zealand Journal of Obstetrics and Gynaecology, vol.46, no.5, pp.384-387, 2006 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 46 Issue: 5
- Publication Date: 2006
- Doi Number: 10.1111/j.1479-828x.2006.00622.x
- Journal Name: Australian and New Zealand Journal of Obstetrics and Gynaecology
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.384-387
- Keywords: androgen receptor, mosaicism, mutation, recurrent abortion, X-chromosome inactivation, GENE, MUTATION, DNA
- Open Archive Collection: AVESIS Open Access Collection
- Lokman Hekim University Affiliated: No
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 (> 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.