Huang L, Xia J, Yang Y
Second Affialiated Hospital, Human Medical University, Changsha.
Zhonghua Fu Chan Ke Za Zhi. 1995 May;30(5):290-3.
On the basis of cytogenetics karyotype analysis, southern blot hybridization using sex-determining region of the Y chromosome (SRY) probe and amplified cation of the genomic DNA between the SRY code region by specific primers through polymerase chain reaction (PCR) have been performed in four cases of hermaphroditism. The results showed that, in 1 46, XY female and 1 45, XO/46, XY female, the SRY specific hybridization band and PCR amplified band could not be detected; in 1 46, XX male, the specific hybridization and PCR band showed SRY gene as in normal male; in another true hermaphrodite, the karyotype is 46, XX/47,XXY, PCR band is detectable but not hybridization band. The mechanism of the abnormal sex differentiation of the cases was analyzed and the two detection methods were compared.
基于细胞遗传学核型分析，对4例两性畸形患者进行了使用Y染色体性别决定区（SRY）探针的Southern印迹杂交以及通过聚合酶链反应（PCR）用特异性引物对SRY编码区之间的基因组DNA进行扩增。结果显示，在1例46,XY女性和1例45,XO/46,XY女性中，未检测到SRY特异性杂交带和PCR扩增带；在1例46,XX男性中，特异性杂交和PCR带显示SRY基因与正常男性相同；在另一例真两性畸形患者中，核型为46,XX/47,XXY，可检测到PCR带，但未检测到杂交带。分析了这些病例性分化异常的机制并比较了两种检测方法。
