Y染色体微缺失是男性不育的原因之一

M. Levkova, T. Chervenkov, L. Angelova
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摘要

男性不育症约占所有不育症病例的一半。位于Y染色体长臂的无精子症因子(AZF)区域的微缺失是男性生殖问题的第二大常见原因。这种基因突变导致精子数量和生育率下降。Y染色体微缺失的存在会降低体外手术的成功率,并会遗传给下一代。我们分析了30篇关于Y染色体缺失和精子数量减少之间关系的文章。其中25个证实了这种基因突变的作用,而其余的没有,但他们只调查了一些AZF位点。负面结果也可能是由于参与者的不同种族,研究方法的差异等。对不育男性进行Y染色体缺失检测可能会大大改善治疗不孕症的选择。此外,如果这种突变被诊断出来,这是一个遗传咨询的迹象,以避免下一代未来的生育问题。对纳入的文章的回顾证明了Y染色体微缺失作为男性不育的原因的作用,并概述了对这种突变进行基因检测时的主要原则。
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Y chromosome microdeletions as a cause for male infertility
Male infertility represents around half of all cases of infertility. The microdeletions of the azoospermia factor (AZF) region, located in the long arm of Y chromosome, are the second most common reason for reproductive problems among men. This genetic mutation results in low sperm count and fertility rate. The presence of Y microdeletions can lower the success rate of in vitro procedures and would be transmitted to the next generation. We have analyzed 30 articles about the connection between the deletions of the Y chromosome and the decreased sperm count. 25 of them confirm the role of this genetic mutation, while the rest do not, but they investigate only some AZF loci. The negative results could also be due to the different ethnic origin of the participants, difference between the research method and etc. Testing infertile men for Y chromosome deletions could lead to a major improvement in the options for treating infertility. Also, if such mutation is diagnosed, this is an indication for genetic counseling in order to avoid future fertility issues in the next generation. The review of the included articles proves the role of the Y chromosome microdeletions as a reason for male infertility and outlines the main principles when performing the genetic test for this mutation.
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