SRY基因是继ZFY基因之后新近克隆的TDF的最佳候选基因。本文采用SRY/Y—重复DNA双重PCR对8例性反转综合征患者进行了 SRY基因的筛查。结果表明,在4例典型的46,XX男性患者的基因组中均存在有 SRY基因序列,但无Y重复DNA存在。表明 SRY基因所在的Y-DNA序列与46,XX男性综合征的发生相关。在4例46,XY女性中,其SRY基因均未发生缺失,说明其性反转的发生不是因SRY基因的缺失所致,而可能存在有其它的遗传机制导致其性反转的发生,如SRY基因的突变等。 The SRY gene is the best candidate for TDF cloned recently following the ZFY gene. In this paper, SRY / Y-repeat DNA double PCR in 8 cases of reversal syndrome SRY gene screening. The results showed that there are SRY gene sequences in the genomes of four typical 46, XX male patients, but no Y repeat DNA exists. The results indicated that the Y-DNA sequence of SRY gene was associated with the occurrence of 46 and XX males syndrome. In 46 cases of XY XY female, none of the SRY gene deletion, indicating that the occurrence of sexual inversion is not due to the lack of SRY gene, but there may be other genetic mechanisms leading to the occurrence of sexual inversion, such as SRY gene mutation.