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[46,XX男性表型与SRY基因关系的研究]

[The investigation of the relationship between the phenotypes of 46, XX males and the SRY gene].

作者信息

Wang Yue-ping, Zhao Yun-jing, Ruan Qiang, Ji Yao-hua, Hao Ming-ge, Jiang Wei-hua

机构信息

Genetics Laboratory, the Affiliated Shengjing Hospital, China Medical University, Shenyang, Liaoning, 110004 PR China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb;26(1):95-7. doi: 10.3760/cma.j.issn.1003-9406.2009.01.022.

DOI:10.3760/cma.j.issn.1003-9406.2009.01.022
PMID:19199262
Abstract

OBJECTIVE

To investigate the relationship between the phenotypes in XX male patients and the sex determining region(SRY) gene.

METHODS

Multiple polymerase chain reactions were carried out in 6 male patients with karyotype of 46, XX, and then the PCR products were sequenced directly.

RESULTS

Three cases of male infertility were positive for the SRY gene without evident malformation in their extra genitalia, while 3 cases with testes were negative for the SRY gene, with evident malformation in their extra genitalia.

CONCLUSION

The SRY gene is key in sex determination and development, yet there might be other important genes involved.

摘要

目的

研究XX男性患者的表型与性别决定区(SRY)基因之间的关系。

方法

对6例核型为46, XX的男性患者进行多重聚合酶链反应,然后直接对PCR产物进行测序。

结果

3例男性不育患者SRY基因呈阳性,其外生殖器无明显畸形;而3例有睾丸的患者SRY基因呈阴性,其外生殖器有明显畸形。

结论

SRY基因在性别决定和发育中起关键作用,但可能还有其他重要基因参与其中。

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