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

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      Author(s)
      Bagislar, S.
      Ustuner, I.
      Cengiz, B.
      Soylemez, F.
      Akyerli, C. B.
      Ceylaner, S.
      Ceylaner, G.
      Acar, A.
      Ozcelik, T.
      Date
      2006
      Source Title
      Australian and New Zealand Journal of Obstetrics and Gynaecology
      Print ISSN
      0004-8666
      Publisher
      Wiley-Blackwell Publishing Asia
      Volume
      46
      Issue
      5
      Pages
      384 - 387
      Language
      English
      Type
      Article
      Item Usage Stats
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      286
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      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; 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.
      Keywords
      Androgen receptor
      Mosaicism
      Mutation
      Recurrent abortion
      X-chromosome inactivation
      Androgen receptor
      DNA
      Adult
      Allele
      Article
      Controlled study
      Female
      Gene mutation
      Genetic analysis
      Genetic polymorphism
      Genetic susceptibility
      Human
      Karyotype
      Major clinical study
      Pathogenesis
      Polymerase chain reaction
      Priority journal
      Protein methylation
      Receptor gene
      Recurrent abortion
      Risk factor
      Sex chromosome mosaicism
      Spontaneous abortion
      Statistical analysis
      Trinucleotide repeat
      X chromosome inactivation
      Abortion, Habitual
      Alleles
      DNA
      DNA Methylation
      Humans
      Mosaicism
      Polymorphism, Genetic
      Pregnancy
      Receptors, Androgen
      X Chromosome Inactivation
      Permalink
      http://hdl.handle.net/11693/23708
      Published Version (Please cite this version)
      http://dx.doi.org/10.1111/j.1479-828X.2006.00622.x
      Collections
      • Department of Molecular Biology and Genetics 542
      • Institute of Materials Science and Nanotechnology (UNAM) 2258
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