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성선 이형성 환자 혈액 및 성선 조직에서 Y염색체 모자이시즘의 진단
DC Field | Value | Language |
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dc.contributor.author | 김세광 | - |
dc.contributor.author | 배상욱 | - |
dc.date.accessioned | 2019-11-26T01:21:17Z | - |
dc.date.available | 2019-11-26T01:21:17Z | - |
dc.date.issued | 1999 | - |
dc.identifier.issn | 1226-2951 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/172945 | - |
dc.description.abstract | Objective: The presence of Y chromosome in patients with gonadal dysgenesis is related to the risk of gonadoblastoma. Since the patients with abnormal sexual differentiation may have cryptic Y mosaicism, it is important to detect the presence of Y material in these patients. But sometimes it is difficult to detect Y material only with karyotyping. This study was performed to evaluate the usefulness of the SRY gene screening in blood and gonad by using PCR in detecting the presence of Y material and possible tissue mosaicism in patients with gonadal dysgenesis as Turner syndrome and 46,XY pure gonadal dysgenesis ( PGD, Swyer syndrome). Method: In 26 patients with gonadal dysgenesis, we screened for Y material by using PCR for SRY gene in peripheral leukocytes and in gonadal tissues of some patients. They were 22 cases of Turner syndrome (7 45,XO, 2 46,Xi(Xq), 3 45,XO/46,XX, 5 45,XO/46,Xi(Xq), 1 45,XO/46,XY, 1 45,XO/46,Xi(Yq), 1 45,XO/47,XYY, 1 46,XX,del(X)(q24) and 1 46,X,+mar) and 4 cases of 46,XY pure gonadal dysgenesis. PCR for SRY gene in the gonadal tissue was performed in 5 Turner syndrome and 2 PGD to determine the cryptic Y mosaicism between blood and gonad. Results: By using PCR analysis for SRY, Y chromosome material was detected in the blood of 4 of 22 Turner syndrome patients (45,XO/46,Xi(Xq), 45,XO/46,Xi(Yq), 45,XO/46,XY, and 45,XO/47,XYY), 3 of 4 46,XY pure gonadal dysgenesis. Discrepancy between karyotyping and blood PCR for SRY was noted in 1 Turner syndrome (45,XO/46,Xi(Xq)) and 1 PGD. Laparoscopic gonadectomy was performed in Y containing or SRY positive cases. In addition, PCR analysis for SRY in the gonads of 5 Turner syndrome and 2 PGD showed discrepancy between blood and gonad or between both gonads in 3 Turner syndrome (45,XO/46,Xi(Xq), 45,XO/46,Xi(Yq), 45,XO/46,XY) and 2 PGD patients. Conclusion: In gonadal dysgenesis, PCR analysis for SRY gene is useful to detect the cryptic Y mosaicism that is sometimes undetected by karyotyping. And since there may be tissue mosaicism, it is necessary to evaluate Y mosaicism in various tissues even in the case without Y chromosome on karyotyping. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | Korean | - |
dc.publisher | 대한불임학회 | - |
dc.relation.isPartOf | Korean Journal of the Fertility and Sterility | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | 성선 이형성 환자 혈액 및 성선 조직에서 Y염색체 모자이시즘의 진단 | - |
dc.title.alternative | Detection of Y mosaicism in gonadal dysgenesis | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Obstetrics and Gynecology (산부인과학교실) | - |
dc.contributor.googleauthor | 김진영 | - |
dc.contributor.googleauthor | 이상준 | - |
dc.contributor.googleauthor | 박기현 | - |
dc.contributor.googleauthor | 김정연 | - |
dc.contributor.googleauthor | 배상욱 | - |
dc.contributor.googleauthor | 이병석 | - |
dc.contributor.googleauthor | 김세광 | - |
dc.contributor.googleauthor | 김인규 | - |
dc.contributor.googleauthor | 조동제 | - |
dc.contributor.googleauthor | 송찬호 | - |
dc.contributor.googleauthor | 김재욱 | - |
dc.contributor.googleauthor | 이호준 | - |
dc.contributor.localId | A00601 | - |
dc.contributor.localId | A01793 | - |
dc.relation.journalcode | J02009 | - |
dc.subject.keyword | Y-Mosaicism | - |
dc.subject.keyword | Gonadal dysgenesis | - |
dc.subject.keyword | SRY gene | - |
dc.subject.keyword | PCR | - |
dc.contributor.alternativeName | Kim, Sei Kwang | - |
dc.contributor.affiliatedAuthor | 김세광 | - |
dc.contributor.affiliatedAuthor | 배상욱 | - |
dc.citation.volume | 26 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 457 | - |
dc.citation.endPage | 465 | - |
dc.identifier.bibliographicCitation | Korean Journal of the Fertility and Sterility, Vol.26(3) : 457-465, 1999 | - |
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