Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion
dc.citation.epage | 387 | en_US |
dc.citation.issueNumber | 5 | en_US |
dc.citation.spage | 384 | en_US |
dc.citation.volumeNumber | 46 | en_US |
dc.contributor.author | Bagislar, S. | en_US |
dc.contributor.author | Ustuner, I. | en_US |
dc.contributor.author | Cengiz, B. | en_US |
dc.contributor.author | Soylemez, F. | en_US |
dc.contributor.author | Akyerli, C. B. | en_US |
dc.contributor.author | Ceylaner, S. | en_US |
dc.contributor.author | Ceylaner, G. | en_US |
dc.contributor.author | Acar, A. | en_US |
dc.contributor.author | Ozcelik, T. | en_US |
dc.date.accessioned | 2016-02-08T10:17:58Z | |
dc.date.available | 2016-02-08T10:17:58Z | |
dc.date.issued | 2006 | en_US |
dc.department | Department of Molecular Biology and Genetics | en_US |
dc.description.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. | en_US |
dc.description.provenance | Made available in DSpace on 2016-02-08T10:17:58Z (GMT). No. of bitstreams: 1 bilkent-research-paper.pdf: 70227 bytes, checksum: 26e812c6f5156f83f0e77b261a471b5a (MD5) Previous issue date: 2006 | en |
dc.identifier.doi | 10.1111/j.1479-828X.2006.00622.x | en_US |
dc.identifier.issn | 0004-8666 | |
dc.identifier.uri | http://hdl.handle.net/11693/23708 | |
dc.language.iso | English | en_US |
dc.publisher | Wiley-Blackwell Publishing Asia | en_US |
dc.relation.isversionof | http://dx.doi.org/10.1111/j.1479-828X.2006.00622.x | en_US |
dc.source.title | Australian and New Zealand Journal of Obstetrics and Gynaecology | en_US |
dc.subject | Androgen receptor | en_US |
dc.subject | Mosaicism | en_US |
dc.subject | Mutation | en_US |
dc.subject | Recurrent abortion | en_US |
dc.subject | X-chromosome inactivation | en_US |
dc.subject | Androgen receptor | en_US |
dc.subject | DNA | en_US |
dc.subject | Adult | en_US |
dc.subject | Allele | en_US |
dc.subject | Article | en_US |
dc.subject | Controlled study | en_US |
dc.subject | Female | en_US |
dc.subject | Gene mutation | en_US |
dc.subject | Genetic analysis | en_US |
dc.subject | Genetic polymorphism | en_US |
dc.subject | Genetic susceptibility | en_US |
dc.subject | Human | en_US |
dc.subject | Karyotype | en_US |
dc.subject | Major clinical study | en_US |
dc.subject | Pathogenesis | en_US |
dc.subject | Polymerase chain reaction | en_US |
dc.subject | Priority journal | en_US |
dc.subject | Protein methylation | en_US |
dc.subject | Receptor gene | en_US |
dc.subject | Recurrent abortion | en_US |
dc.subject | Risk factor | en_US |
dc.subject | Sex chromosome mosaicism | en_US |
dc.subject | Spontaneous abortion | en_US |
dc.subject | Statistical analysis | en_US |
dc.subject | Trinucleotide repeat | en_US |
dc.subject | X chromosome inactivation | en_US |
dc.subject | Abortion, Habitual | en_US |
dc.subject | Alleles | en_US |
dc.subject | DNA | en_US |
dc.subject | DNA Methylation | en_US |
dc.subject | Humans | en_US |
dc.subject | Mosaicism | en_US |
dc.subject | Polymorphism, Genetic | en_US |
dc.subject | Pregnancy | en_US |
dc.subject | Receptors, Androgen | en_US |
dc.subject | X Chromosome Inactivation | en_US |
dc.title | Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion | en_US |
dc.type | Article | en_US |
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