寻求辅助生殖的维也纳男性Y染色体无精子症因子区域微缺失情况
Absence of microdeletions in the azoospermia-factor region of the Y-chromosome in Viennese men seeking assisted reproduction.
作者信息
Gruber Christian J, Hengstschläger Markus, Wieser Friedrich, Gruber Doris M, Walch Katharina, Ferlitsch Kathrin, Gruber Isabel M, Maar Angela, Marton Eva, Bernaschek Gerhard, Huber Johannes C
机构信息
Division of Gynaecologic Endocrinology and Reproductive Medicine, University of Vienna Medical School, Vienna, Austria.
出版信息
Wien Klin Wochenschr. 2003 Dec 15;115(23):831-4. doi: 10.1007/BF03041043.
PURPOSE
The azoospermia-factor region of the Y-chromosome is essential for spermatogenesis in humans. In the literature, a wide range is given for the frequency of microdeletions in this region. The purpose of this study was to evaluate our own population of patients.
METHODS
During a two-year period at Vienna Medical School, all male patients (n = 383) seeking assisted reproduction were screened for microdeletions. Thirty-three men had azoospermia and 154 severe oligozoospermia. Genomic DNA was prepared from peripheral lymphocytes and polymerase chain reaction analysis of the azoospermia-factor region was performed using the Promega kit.
RESULTS
No case tested positive for azoospermia-factor microdeletions. In all cases amplification of 18 non-polymorphic sequence tagged sites was obtained.
CONCLUSIONS
Y-chromosome microdeletions do not seem to be an important factor for male infertility in our patients. This suggests that screening should be restricted to men with azoospermia or severe oligozoospermia only.
目的
Y染色体的无精子症因子区域对人类精子发生至关重要。文献中给出了该区域微缺失频率的广泛范围。本研究的目的是评估我们自己的患者群体。
方法
在维也纳医学院的两年时间里，对所有寻求辅助生殖的男性患者（n = 383）进行了微缺失筛查。33名男性患有无精子症，154名患有严重少精子症。从外周淋巴细胞制备基因组DNA，并使用Promega试剂盒对无精子症因子区域进行聚合酶链反应分析。
结果
没有病例检测出无精子症因子微缺失呈阳性。在所有病例中，均获得了18个非多态性序列标签位点的扩增。
结论
Y染色体微缺失似乎不是我们患者男性不育的重要因素。这表明筛查应仅限于无精子症或严重少精子症的男性。
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