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조기난소부전 환자에서 X 염색체 불활성화 분석
DC Field | Value | Language |
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dc.contributor.author | 박기현 | - |
dc.contributor.author | 이병석 | - |
dc.date.accessioned | 2015-07-14T17:24:28Z | - |
dc.date.available | 2015-07-14T17:24:28Z | - |
dc.date.issued | 2004 | - |
dc.identifier.issn | 1738-5628 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/112820 | - |
dc.description.abstract | Objective: Premature ovarian failure (POF) is a highly heterogenous condition, and its etiology remains unknown in approximately two-thirds of cases. POF can be caused by Turner syndrome, genetic disease, iatrogenic agents such as chemotherapy and radiotherapy, infection and autoimmune disease. X chromosome inactivation is the random process in females during early embryogenesis to achieve dosage compensation with males. But skewed X chromosome inactivation occurs in the female carriers, secondary to cell-autonomous selection against cells in which the abnormal X chromosome is active. Highly skewed X chromosome inactivation is likely to occur in POF which caused by subcytogenetic X chromosome deletion or translocation and X-linked gene mutation. The present study was performed to investigate whether highly skewed inactivation of X chromosome is observed in POF. Methods: Eighty-six women with premature ovarian failure were studied and eighty-three normal women were enrolled as a control group. X chromosome inactivation pattern were determined by studying methylation pattern of androgen receptor gene. Results: Seventy-six of the 86 POF patients were informative for X chromosome inactivation assay, 8 (10.5%) of them showed highly skewed X chromosome inactivation. In the age matched control group, 3 (4.1%) out of the 74 subjects showed highly skewed X chromosome inactivation. However, this finding is not statistically significant (p=0.2274). Among highly skewed X inactivation, one case of premature ovarian failure revealed 46,XX,del(X)(p21) by high resolution band karyotyping. Therefore highly skewed X inactivation can provide clues to evaluate the causes in POF. Conclusion: This study suggests that screening of skewed X chromosome inactivation for the POF will be useful to detect subcytogenetic X chromosome deletion or translocation and X-linked gene mutation associated with POF. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 1558~1564 | - |
dc.relation.isPartOf | Korean Journal of Obstetrics and Gynecology (대한산부인과학회잡지) | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | 조기난소부전 환자에서 X 염색체 불활성화 분석 | - |
dc.title.alternative | Analysis of X Chromosome Inactivation in Women with Premature Ovarian Failure | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Obstetrics & Gynecology (산부인과학) | - |
dc.contributor.googleauthor | 손인숙 | - |
dc.contributor.googleauthor | 유달영 | - |
dc.contributor.googleauthor | Andrew R. Zinn | - |
dc.contributor.googleauthor | 황경주 | - |
dc.contributor.googleauthor | 이병석 | - |
dc.contributor.googleauthor | 박기현 | - |
dc.contributor.googleauthor | 정소정 | - |
dc.contributor.googleauthor | 윤병일 | - |
dc.contributor.googleauthor | 이지영 | - |
dc.contributor.googleauthor | 김수녕 | - |
dc.contributor.googleauthor | 차윤정 | - |
dc.contributor.googleauthor | 장동욱 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A01450 | - |
dc.contributor.localId | A02795 | - |
dc.relation.journalcode | J02075 | - |
dc.subject.keyword | Premature ovarian failure | - |
dc.subject.keyword | Skewed X inactivation | - |
dc.contributor.alternativeName | Park, Ki Hyun | - |
dc.contributor.alternativeName | Lee, Byung Seok | - |
dc.contributor.affiliatedAuthor | Park, Ki Hyun | - |
dc.contributor.affiliatedAuthor | Lee, Byung Seok | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 47 | - |
dc.citation.number | 8 | - |
dc.citation.startPage | 1558 | - |
dc.citation.endPage | 1564 | - |
dc.identifier.bibliographicCitation | Korean Journal of Obstetrics and Gynecology (대한산부인과학회잡지), Vol.47(8) : 1558-1564, 2004 | - |
dc.identifier.rimsid | 44534 | - |
dc.type.rims | ART | - |
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