Extremely Skewed X-Chromosome Inactivation Patterns in Women With Recurrent Spontaneous Abortion
Yükleniyor...
Dosyalar
Tarih
2006
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Blackwell Publishing
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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; chi(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; chi(2) test). Conclusions: These results support the interpretation that disturbances in XCI mosaicism may be involved in the pathogenesis of RSA.
Açıklama
European Human Genetics Conference -- JUN 12-15, 2004 -- Munich, GERMANY
Anahtar Kelimeler
androgen receptor, mosaicism, mutation, recurrent abortion, X-chromosome inactivation
Kaynak
Australian & New Zealand Journal of Obstetrics & Gynaecology
WoS Q Değeri
Q4
Scopus Q Değeri
Q2
Cilt
46
Sayı
5
Künye
Bağışlar, S., Üstüner, I., Cengiz, B., Söylemez, F., Akyerli, C. B., Ceylaner, S., Ceylaner, G., Acar, A., Özçelik, T., (2006). Extremely Skewed X-Chromosome Inactivation Patterns in Women With Recurrent Spontaneous Abortion. Australian & New Zealand Journal of Obstetrics & Gynaecology, 46(5), 348-387. Doi: 10.1111/j.1479-828X.2006.00622.x
