46,XX真两性畸形的基因诊断

摘要

睾丸决定因子(Testis-determining factor,TDF)位于Y染色体短臂上,它的表达产物诱导睾丸组织的发生.SRY基因(Sex-determing region of the Y)位于Y染色体的性别决定区内,许多特征显示SRY可能就是TDF.采用多聚酶链反应(PCR)结合斑点杂交对3例46,XX真两性畸形性腺组织的石蜡切片中SRY基因进行检测,2例检测到SRY基因,1例未检测到.性腺组织病理检查均为卵睾组织.为探讨两性畸形的发病机理提供了资料.%The testis-determining factor(TDF)lies on the Y chromosone and is responsible for initiating male determination.SRY is a gene located in the sex determining region of the human Y chromosone and has many of the properties expected of TDF.Using polymerase chain reaction(PCR)and dot blot on paraffin-embedded gonad tisrnsue taken from 46,XX true hermaphrodites,the SRY gene was detected in two out of three cases but not in the third.All three gonads were ovariotestis on pathological examination.The results contributed to the understanding of the mechanism of 46,XX true hermaphroditism.