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

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

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。

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.