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[Y染色体微缺失的部位和范围对精子发生的预后价值]

[The prognostic value of the site and extent of Y chromosome microdeletions on spermatogenesis].

作者信息

Kleiman Sandra E, Yogev Leah, Paz Gedalia, Yavetz Haim

机构信息

Institute for the Study of Fertility Lis Maternity Hospital, Clinical Biochemistry Laboratory, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

出版信息

Harefuah. 2002 Feb;141(2):178-80, 222, 221.

Abstract

Genes on Y-chromosome are involved in the regulation of spermatogenesis. Y-chromosome microdeletions were identified among infertile patients in a frequency of 7.5-15% on the long arm of the chromosome. These microdeletions were clustered in 3 main regions named AZFa, AZFb, and AZFc. Reanalyzing the histological findings in men with well-defined varying extent of Y-chromosome microdeletions improved our understanding of the prospect of finding testicular spermatozoa. The chances of finding spermatozoa were almost nil in men with microdeletions that include the complete AZFa region or AZFb region or at least two AZF regions. Large microdeletions that include the Yq tip were suggested to cause chromosomal instability and were shown to be prone to Y chromosome loss. In addition, a decrease of sperm count over time in men with AZFc deletions has been reported and the option of spermatozoa cryo-preservation need to be taken in consideration. Analysis of the Y-chromosome microdeletion was found to be of prognostic value in cases of infertility both in terms of clinical management as well as for understanding the etiology of the spermatogenesis impairment.

摘要

Y染色体上的基因参与精子发生的调控。在不育患者中,Y染色体微缺失在染色体长臂上的检出频率为7.5%-15%。这些微缺失集中在3个主要区域,分别命名为AZFa、AZFb和AZFc。重新分析具有明确不同程度Y染色体微缺失男性的组织学结果,有助于我们更好地理解找到睾丸精子的可能性。在包含完整AZFa区域或AZFb区域或至少两个AZF区域的微缺失男性中,找到精子的机会几乎为零。包含Yq末端的大片段微缺失被认为会导致染色体不稳定,并显示出易于发生Y染色体丢失。此外,有报道称,AZFc缺失男性的精子数量会随时间减少,因此需要考虑精子冷冻保存的选择。研究发现,Y染色体微缺失分析对于不育病例在临床管理以及理解精子发生障碍的病因方面都具有预后价值。

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