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Extremely skewed X‐chromosome inactivation patterns in women with recurrent spontaneous abortion
Author(s) -
BAGISLAR Sevgi,
USTUNER Isik,
CENGIZ Bora,
SOYLEMEZ Feride,
AKYERLI Cemaliye Boylu,
CEYLANER Serdar,
CEYLANER Gulay,
ACAR Aynur,
OZCELIK Tayfun
Publication year - 2006
Publication title -
australian and new zealand journal of obstetrics and gynaecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.734
H-Index - 65
eISSN - 1479-828X
pISSN - 0004-8666
DOI - 10.1111/j.1479-828x.2006.00622.x
Subject(s) - abortion , x inactivation , x chromosome , obstetrics , genetics , biology , medicine , pregnancy , gene
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 Hpa II 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; χ 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; χ 2 test). Conclusions: These results support the interpretation that disturbances in XCI mosaicism may be involved in the pathogenesis of RSA.