摘要
采用Y-DNA特异性探针对4例46,XY女性和1例47,XYY女性进行Southern印迹分析,结果表明除1例46,XY女性有pDP34检测片段丢失外,其他46,XY女性和47,XYY女性均无任何可检测Y-DNA片段丢失。X-Y异常交换学说不能解释这些ZFY阳性的46,XY女性和47,XYY女性的病因,提示可能存在其他遗传机理。本文就基因突变、性腺受体缺陷等可能发病机理进行探讨。
In this paper, 4 females of 46,XY and one of 47,XYY karyotype were studied by Southern blotting using 10 Y-DNA probes. The results showed that 3 cases of 46,XY and the one 47,XYY had not lost any Y-specific fragment, while one 46, XY had lost a 15 kb Y-specific fragment, as detected by pDP34. The cause of these 46,XY and 47,XYY karyotypes could not be explained by the theory of X-Y unequal exchange in meiosis. It was postulated that an alternative genetic mechanism, such as gene mutation or defective gonad receptor, might be related to sex reversion in these patients.
出处
《中国医学科学院学报》
CAS
CSCD
北大核心
1992年第1期27-32,共6页
Acta Academiae Medicinae Sinicae
关键词
性染色体异常
性反转综合征
sex chromosome abnortities
sex reversed syndrome
Southern hybridization
