EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004.
نویسندگان
چکیده
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.
منابع مشابه
EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013
The molecular diagnosis of Y-chromosomal microdeletions is a common routine genetic test which is part of the diagnostic workup of azoospermic and severe oligozoospermic men. Since 1999, the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN) have been actively involved in supporting the improvement of the quality of the diagnostic assays by publicatio...
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After the Klinefelter syndrome, Y chromosomal microdeletions are the second most frequent genetic cause of male infertility. The European Academy Andrology (EAA) and the European Molecular genetics Quality Network (EMQN) revised the new 2014 laboratory guidelines on Sep 2013 based on 1999 and 2004 editions according to 12 years clinical accumulation and specialist consensus. The new guideline e...
متن کاملA One-Step Real-Time Multiplex PCR for Screening Y-Chromosomal Microdeletions without Downstream Amplicon Size Analysis
BACKGROUND Y-chromosomal microdeletions (YCMD) are one of the major genetic causes for non-obstructive azoospermia. Genetic testing for YCMD by multiplex polymerase chain reaction (PCR) is an established method for quick and robust screening of deletions in the AZF regions of the Y-chromosome. Multiplex PCRs have the advantage of including a control gene in every reaction and significantly redu...
متن کاملبررسی مولکولی حذفهای کروموزوم Y در نواحی AZF بیماران مبتلا به آزواسپرمی و اولیگواسپرمی غیر انسدادی مراجعهکننده به مرکز ناباروری منتصریه مشهد
Background and Aim: The Y-chromosome azoospermic factor (AZF) regions consist of genes whose specific roles and functions in spermatogenesis and fertility have not been completely clarified. Hence, recognition of the association between AZF microdeletions and male infertility has suggestions for the diagnosis, treatment, and genetic counseling. The main objective of the present study was invest...
متن کاملPrevalence of Y chromosome microdeletions in infertile Tunisian men.
Yq microdeletions are the leading genetic cause of male infertility and its detection in clinically relevant for appropriate genetic counseling. The objective of this study was to determine the frequency of Y microdeletion in a group of Tunisian infertile men and to compare the prevalence of these abnormalities with other countries and other Tunisian reported series. Totally, 105 Tunisian idiop...
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ورودعنوان ژورنال:
- International journal of andrology
دوره 27 4 شماره
صفحات -
تاریخ انتشار 2004