EAA/EMQN best practice guidelines for molecular diagnosis of y‐chromosomal microdeletions. State of the art 2004
Top Cited Papers
Open Access
- 21 July 2004
- journal article
- Published by Wiley in International Journal of Andrology
- Vol. 27 (4) , 240-249
- https://doi.org/10.1111/j.1365-2605.2004.00495.x
Abstract
Summary: 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.Keywords
This publication has 53 references indexed in Scilit:
- Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selectionNature Genetics, 2003
- The male-specific region of the human Y chromosome is a mosaic of discrete sequence classesNature, 2003
- Polymorphic DAZ gene family in polymorphic structure of AZFc locus: Artwork or functional for human spermatogenesis?APMIS, 2003
- Double-Blind Y Chromosome Microdeletion Analysis in Men with Known Sperm Parameters and Reproductive Hormone Profiles: Microdeletions Are Specific for Spermatogenic FailureJournal of Clinical Endocrinology & Metabolism, 2001
- Y Chromosome Microdeletions and Alterations of SpermatogenesisEndocrine Reviews, 2001
- Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of de novo deletionsFertility and Sterility, 2000
- Laboratory guidelines for molecular diagnosis of Y‐chromosomal microdeletionsInternational Journal of Andrology, 1999
- Defining regions of the Y‐chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y‐chromosome microdeletion detectionMolecular Reproduction and Development, 1999
- Y chromosome and male infertilityFrontiers in Bioscience-Landmark, 1999
- The incidence and possible relevance of Y-linked microdeletions in babies born after intracytoplasmic sperm injection and their infertile fathersMolecular Human Reproduction, 1996