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对男性不育和生育能力低下患者进行 Y 染色体缺失的常规诊断性检测。

Routine diagnostic testing of Y chromosome deletions in male infertile and subfertile.

出版信息

Gene. 2012 Jul 15;503(1):160-4. doi: 10.1016/j.gene.2012.04.079. Epub 2012 May 2.

Abstract

Male factor infertility elucidated about half the couple of infertility and in around 50% of cases, its etiology remains unknown. The aim of this study was to investigate a predisposing genetic background for Yq deletions and male infertility and effectiveness of molecular genetic approaches have uncovered several etiopathogenetic factors, such as microdeletions of Yq chromosome. The Y chromosome microdeletions removing the azoospermia factor (AZF) regions, which are most common molecular genetic causes of oligospermia or azoospermia. However, with the analysis of Yq deletions, we are able to obtain a better understanding of the clinical significance of genetic anomaly and to the identifying of fertility candidate genes in the AZF regions. Molecular genetic approaches, becomes a routine diagnostic test, that provides an etiology for spermatogenic disturbances, and prognosis for testicular sperm retrieval according to the type of deletion.

摘要

男性因素不育症解释了大约一半的夫妇不孕的原因,而在大约 50%的情况下,其病因仍然未知。本研究的目的是探讨 Yq 缺失与男性不育症的易感性遗传背景,以及分子遗传方法的有效性已经揭示了一些病因发病因素,如 Y 染色体长臂微缺失。Y 染色体微缺失去除了无精子因子(AZF)区域,这是少精子症或无精子症最常见的分子遗传原因。然而,通过对 Yq 缺失的分析,我们能够更好地理解遗传异常的临床意义,并在 AZF 区域中鉴定出生育候选基因。分子遗传方法已成为一种常规的诊断测试,它可以根据缺失的类型为精子发生障碍提供病因,并预测睾丸精子提取的预后。

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