EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004
EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004
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DOI：
10.1111/j.1365-2605.2004.00495.x
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发表时间：
2004-08-01
影响因子：
--
通讯作者：
Krausz, C
中科院分区：
文献类型：
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作者：
Simoni, M;Bakker, E;Krausz, C
Y染色体的微缺失是继Klinefelter综合征之后第二个最常见的不育男性精子发生失败的遗传原因。Y染色体微缺失的分子诊断通常在无精子症或严重少精子症男性不育症的检查中进行。自1999年以来，欧洲男科学会（EAA）和欧洲分子遗传学质量网络（EMQN）通过出版Y染色体微缺失分子诊断实验室指南和提供外部质量评估试验来支持诊断测定的质量改进。1999年实验室指南的当前修订版总结了2003年10月在佛罗伦萨（意大利）举行的“最佳实践会议”的结果。1999年指南中建议的微缺失筛查基本方案被证明是非常准确、灵敏和可靠的。鉴于Y染色体序列和微缺失机制知识的最新进展，一致认为1999年的基本方案，基于两个多重聚合酶链反应，每个反应覆盖三个AZF区域，仍然完全有效，适合准确诊断。
Microdeletions of the Y chromosome are the second most frequent genetic cause of spermatogenetic failure in infertile men after the Klinefelter syndrome. The molecular diagnosis of Y-chromosomal microdeletions is routinely performed in the workup of male infertility in men with azoospermia or severe oligozoospermia. Since 1999, the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN) support the improvement of the quality of the diagnostic assays by publication of the laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions and by offering external quality assessment trials. The present revision of the 1999 laboratory guidelines summarizes the results of a 'Best Practice Meeting' held in Florence (Italy) in October 2003. The basic protocol for microdeletion screening suggested in the 1999 guidelines proved to be very accurate, sensitive and robust. In the light of the recent advance in the knowledge of the Y chromosome sequence and of the mechanism of microdeletion it was agreed that the basic 1999 protocol, based on two multiplex polymerase chain reactions each covering the three AZF regions, is still fully valid and appropriate for accurate diagnosis.