Molecular analysis of Y chromosome microdeletions in idiopathic cases of male infertility in Serbia |
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Authors: | M Ristanovic V Bunjevacki C Tulic I Novakovic A Nikolic |
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Institution: | (1) Institute of Human Genetics, Medical Faculty, University of Belgrade, Belgrade, 11000, Serbia and Montenegro;(2) Institute of Urology, Clinical Center of Serbia, Medical Faculty, University of Belgrade, Belgrad, 11000, Serbia and Montenegro;(3) Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia and Montenegro |
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Abstract: | The aim of this study was to detect frequency of microdeletions of Y chromosome in idiopathic cases of male infertility in
Serbian population. Patients were subjected to detailed clinical, endocrinological and cytogenetic examinations. Ninety patients
with normal cytogenetic findings with azoospermia and severe oligozoospermia were included in the study. In these patients
microdeletion analysis was performed by multiplex polymerase chain reaction (PCR) method on DNA extracted from peripheral
blood. In each case 6 markers in azoospermia factor (AZF) regions were tested: sY84, sY86 (AZFa); sY127, sY134 (AZFb); sY254,
sY255 (AZFc). Deletions on the Y chromosome were detected in 14 of 90 cases (15.6%), nine with azoospermia and five with severe
oligozoospermia. Of total number of 17 deletions, 11 (64.7%) were detected in AZFc region, three (17.6%) in AZFa region and
three (17.6%) in AZFb region. Microdeletions in AZF region of the Y chromosome, especially AZFc microdeletions, represent
common genetic cause of idiopathic azoospermia and severe oligozoospremia in Serbian infertile men. Therefore, testing for
Y chromosome microdeletions should be considered as an important element in diagnosis and genetic counseling of infertile
men in Serbia and decisions regarding the assisted reproduction should be made based on the presence and type of AZF microdeletions.
The text was submitted by the authors in English. |
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