2023.09 EAA／EMQN实践指南：Y染色体微缺失的分子诊断.pdfVIP

Received: 10 August 2023 Accepted: 11 August 2023 DOI: 10.1111/andr.13514 R E V I E W A R T I C L E EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State of the art 2023 Csilla Krausz1 Paulo Navarro-Costa2,3 Martina Wilke4 Frank Tüttelmann5 1 Department of Experimental and Clinical Biomedical Sciences “Mario Serio”, University Abstract of Florence, University Hospital Careggi, Testing for AZoospermia Factor (AZF) deletions of the Y chromosome is a key com- Florence, Italy 2 ponent of the diagnostic workup of azoospermic and severely oligozoospermic men. EvoReproMed Lab, Environmental Health Institute (ISAMB), Associate Laboratory This revision of the 2013 European Academy of Andrology (EAA) and EMQN CIC TERRA, Faculty of Medicine, University of (previously known as the European Molecular Genetics Quality Network) laboratory Lisbon, Lisbon, Portugal 3 Gulbenkian Science Institute, Oeiras, guidelines summarizes recent clinically relevant advances and provides an update on Portugal the results of the external quality assessment program jointly offered by both orga- 4 Department of Clinical Genetics, Erasmus nizations. A basic multiplex PCR reaction followed by a deletion extension analysis MC, Rotterdam, The Netherlands 5 remains the gold-standard methodology to detect and correctly interpret AZF dele- Institute of Reproductive Genetics, University of Münster, Münster, Germany tions. Recent data have led to an update of the sY84 primer sequences, as well as to a