| 性反转综合征病人中SRY基因的PCR筛查 |
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| 引用本文： | 陈金东,单祥年,蒋清,鲁晓瑄,邱定红,严明,郑谷,王世浚. 性反转综合征病人中SRY基因的PCR筛查[J]. 中国男科学杂志, 1994, 0(1) |
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| 作者姓名： | 陈金东 单祥年 蒋清 鲁晓瑄 邱定红 严明 郑谷 王世浚 |
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| 作者单位： | 南京铁道医学院(陈金东，单祥年，蒋清，鲁晓瑄，邱定红，严明，郑谷)，南京铁道医学院(王世浚) |
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| 摘 要： | 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。
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| 关 键 词： | 性反转综合征 性别决定基因 多聚酶链反应 XX男性 XY女性 |
INVESTIGATION OF SRY IN SEX REVERSED SYNDROME PATIENTS |
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| Chen Jin-Dong,et al.. INVESTIGATION OF SRY IN SEX REVERSED SYNDROME PATIENTS[J]. Chinese Journal of Andrology, 1994, 0(1) |
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| Authors: | Chen Jin-Dong et al. |
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| Affiliation: | Chen Jin-Dong,et al.Department of Biology,Nanjing Railway Medical College |
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| Abstract: | SRY (sex-determining region gene)is thought as a strong candidate for the TDF(testis determining factor), which was recently cloned following another candidate ZFY(zinc finger protein gene). In this study, eight cases of sex reversal, which include four 46, XX males and four 46, XY females were examined for presence of SRY sequence and a Y-repeated DNA locus.Our data indicated that the genomic DNA of the four classical 46, XX males had the SRY sequences. On the other hand, both SRY sequences and Y-repeated DNA sequences were present in all four 46, XY females. These results suggest that SRY sequences were responsible for the sex reversal of 46, XX males whereas there may be other genetic mechanisms for the sex reversal of 46, XY females without the lack of SRY.sequences. |
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| Keywords: | Sex reversed syndrome Sex-determining region gene. |
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