Details

Autor(en) / Beteiligte

• BAGISLAR, Sevgi
• USTUNER, Isik
• CENGIZ, Bora
• SOYLEMEZ, Feride
• AKYERLI, Cemaliye Boylu
• CEYLANER, Serdar
• CEYLANER, Gulay
• ACAR, Aynur
• OZCELIK, Tayfun

Titel

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

Ist Teil von

• Australian & New Zealand journal of obstetrics & gynaecology, 2006-10, Vol.46 (5), p.384-387

Ort / Verlag

Melbourne, Australia: Blackwell Publishing Asia

Erscheinungsjahr

2006

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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; 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.