[The development and approbation of methodology on the basis of multiplex polymerase chain reaction in real-time to determine clinically significant micro-deletion in Y-chromosome.]

Autor:	Akselrod EV; The Federal Budget Institution of Science 'The Central Research Institute of Epidemiology' of Rospotrebnadzor, 111123, Moscow, Russia., Mironov KO; The Federal Budget Institution of Science 'The Central Research Institute of Epidemiology' of Rospotrebnadzor, 111123, Moscow, Russia., Mikhailenko DS; The Federal State Autonomous Educational Institution of Higher Education 'The I.M. Sechenov First Moscow State Medical University' of Minzdrav of Russia, 119991, Moscow, Russia.; The N.A. Lopatkin research institute of urology and intervention radiology - the Branch of The Federal State Budget Scientific Institution 'The National Medical Research Center' of Minzdrav of Russia, 105425, Moscow, Russia., Efremov GD; The N.A. Lopatkin research institute of urology and intervention radiology - the Branch of The Federal State Budget Scientific Institution 'The National Medical Research Center' of Minzdrav of Russia, 105425, Moscow, Russia., Perepechin DV; The N.A. Lopatkin research institute of urology and intervention radiology - the Branch of The Federal State Budget Scientific Institution 'The National Medical Research Center' of Minzdrav of Russia, 105425, Moscow, Russia., Alekseiev BY; The N.A. Lopatkin research institute of urology and intervention radiology - the Branch of The Federal State Budget Scientific Institution 'The National Medical Research Center' of Minzdrav of Russia, 105425, Moscow, Russia., Potekhina ES; The Federal Budget Institution of Science 'The Central Research Institute of Epidemiology' of Rospotrebnadzor, 111123, Moscow, Russia., Shipulin GA; The Federal Budget Institution of Science 'The Central Research Institute of Epidemiology' of Rospotrebnadzor, 111123, Moscow, Russia.
Jazyk:	ruština
Zdroj:	Klinicheskaia laboratornaia diagnostika [Klin Lab Diagn] 2018; Vol. 63 (2), pp. 124-128.
DOI:	10.18821/0869-2084-2018-63-2-124-128
Abstrakt:	One of the prevalent genetic causes of idiopathic male sterility is related to micro-deletions in AZF locus located in Y-chromosome. In total population, rate of such micro-deletions makes up to 1:4000. however, in infertile males their rate varies from 2% to 10%. In AZF locus three subregions are distinguished: AZFa, AZFb and AZFc. The loss of one or several subregions can result in disorder of spermatogenesis of various degree - from decreasing of its activity to Sertoli-cell syndrome manifested by azoospermia or oligospermia of severe degree. Therefore, implementation of genetic testing for presence of micro-deletions in AZF locus is a necessary test in case of prognosis of male sterility and its treatment. The purpose of study is to develop and test a diagnostic system of detection of micro-deletions in subregions of AZF locus using multiplex polymerase chain reaction in real-time. As a reference method a technique was implemented described in guidelines of the European Academy of Andrology conjointly with European Molecular Genetics Quality Network. The technique testing specified analysis of 33 samples of DNA separated from blood of males with azoospermia and oligospermia of severe degree. No discordant results were received as compared with reference method. In 27 DNA samples the deletions were detected in AZF locus: 4 AZFa deletions (15%), 2 AZFb deletions (7%), 17 AZFc deletions (63%) and 6 combined deletions of AZFb+candи AZFa+b+с (22%). The proposed technique permits detect micro-deletions of subregions of AZF locus. Competing Interests: The authors declare no conflict of interest.
Databáze:	MEDLINE
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