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精子 DNA 完整性检测:在不孕不育诊治中的诊断、预后挑战及意义。

Sperm DNA integrity assays: diagnostic and prognostic challenges and implications in management of infertility.

机构信息

Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Science, New Delhi, India.

出版信息

J Assist Reprod Genet. 2011 Nov;28(11):1073-85. doi: 10.1007/s10815-011-9631-8. Epub 2011 Sep 9.

Abstract

Sperm is not a simple carrier of paternal genetic information but its role extends clearly beyond fertilization. Integrity of sperm genome is an essential pre-requisite for birth of healthy offspring and evaluation of sperm should entail DNA integrity analysis. DNA integrity analysis is a better diagnostic and prognostic marker of sperm reproductive potential. Conventional semen analysis emphasizes on sperm concentration, viability, motility and morphology and has been proven to be a poor indicator of reproductive potential and pregnancy outcome. To overcome the drawbacks associated with conventional semen analysis more useful fertility tests and molecular biomarkers have been explored. Among the different tests which have evolved for assessing the sperm reproductive potential, tests for sperm DNA quality are most promising. Sperm DNA damage has been closely associated with numerous indicators of reproductive health including fertilization, embryo quality, implantation, spontaneous abortion, congenital malformations and childhood diseases. It therefore has great potential as a prognostic test for both in vitro and in vivo conception. This review presents an updated account of tests that have better diagnostic and prognostic implications in the evaluation of sperm DNA damage. The basic principles, outline of methodology, advantage, disadvantage, clinical significance of each technique and implications of these tests have been discussed. The logistics of each test with respect to available resources and equipment in an andrology laboratory, the feasibility of performing these tests in routine diagnostic workup of infertile men and the opportunities and challenges provided by DNA testing in male fertility determination are also presented.

摘要

精子不仅仅是父系遗传信息的简单载体,其作用显然还超越了受精。精子基因组的完整性是生育健康后代的必要前提,因此评估精子应包括 DNA 完整性分析。DNA 完整性分析是精子生殖潜能的更好的诊断和预后标志物。传统的精液分析强调精子浓度、活力、运动能力和形态,已被证明是生殖潜能和妊娠结局的不良指标。为了克服与传统精液分析相关的缺陷,已经探索了更有用的生育测试和分子生物标志物。在用于评估精子生殖潜能的不同测试中,评估精子 DNA 质量的测试最有前途。精子 DNA 损伤与许多生殖健康指标密切相关,包括受精、胚胎质量、着床、自然流产、先天性畸形和儿童疾病。因此,它作为体外和体内受孕的预后测试具有很大的潜力。这篇综述介绍了在评估精子 DNA 损伤方面具有更好的诊断和预后意义的测试。讨论了每种技术的基本原理、方法学概述、优点、缺点、临床意义以及这些测试的影响。还介绍了每种测试在男科实验室的可用资源和设备方面的具体情况、在不育男性常规诊断中的可行性以及 DNA 测试在男性生育力测定中提供的机会和挑战。

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