| SRY基因突变和性腺肿瘤发生的研究Ⅰ．家族性46，XY女性SRY基因检测 |
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| 引用本文： | 刘伟莉,鄂征,苏华,柯杨.SRY基因突变和性腺肿瘤发生的研究Ⅰ．家族性46，XY女性SRY基因检测[J].北京大学学报(医学版),1994(6). |
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| 作者姓名： | 刘伟莉 鄂征 苏华 柯杨 |
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| 作者单位： | 北京市肿瘤研究所遗传研究室，美国旧金山加州大学 |
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| 摘 要： | 近年证明ＳＲＹ男性性基因是性别决定关键。ＳＲＹ突变能引起男性性异常。４６，ＸＹ性腺发育不全（或ＸＹ女性）系ＳＲＹ基因突变所致，并有高发性腺肿瘤特点。ＳＲＹ突变有多种类型；本研究检测一家庭集聚性ＸＹ女性高发肿瘤成员有个ＳＲＹ基因缺失。结合细胞遗传学和病理学检查结果，对ＸＹ女性性腺癌变机理提出了推测。
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| 关 键 词： | XY女性，性腺发育不全，SRY，无性细胞瘤 |
STUDY ON THE46,XY GONADAL DYSGENESIS WITH SRY GENE MUTATION AND HIGH
OCCURRENCE OF GONADAL TUMOR 1.EXAMINATION QF THE SRY GENE FOR ONE OF
THE MEMBERS IN A FAMILIAL GONADAL DYSGENESIS |
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| Beijing Institute
for Cancer Research Liu Weilei,et al.STUDY ON THE46,XY GONADAL DYSGENESIS WITH SRY GENE MUTATION AND HIGH
OCCURRENCE OF GONADAL TUMOR 1.EXAMINATION QF THE SRY GENE FOR ONE OF
THE MEMBERS IN A FAMILIAL GONADAL DYSGENESIS[J].Journal of Peking University:Health Sciences,1994(6). |
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| Authors: | Beijing Institute
for Cancer Research Liu Weilei |
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| Abstract: | he male sex gene SRY
plays an important role not only for sex determination,but also was
intimately to the development of gonadal tumor.The 46,XY gonadal
dysgenesis(46,XYGD or XY female)was caused by SRY mutation and prone
to develop gonadal tumor.A familial aggregated 46,XYGD has been
examined by cytogenetic and molecular methods.It was demonstrated
that one of the affected members had unilateral
tumor-dysgerminoma.Her SRY was lost totaly. On the basis of present
study a hypothesis for gonadal carcinogenesis has been postulated. |
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| Keywords: | XY female 46 XY gonadal dysgenesis SRY Dysgerminonma |
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