PMID: 18720745Aug 30, 2008Paper

Y chromosome microdeletions in infertile male candidates for microfertilization

Srpski arhiv za celokupno lekarstvo
Momcilo RistanovićAleksandra Nikolić

Abstract

Y chromosome microdeletions are the second most frequent genetic cause of male infertility after Klinefelter's syndrome. The aim of the study was to determine the frequency ofY chromosome microdeletions in a group of infertile men with an idiophatic cause of infertility, candidates for microfertilization (Intra-cytoplasmic Sperm Injection--ICSI) in Serbia and to correlate genotype-phenotype in patients with Y chromosome microdeletions. One hundred and sixty patients with low sperm count (less than 5 x 10(6) spermatozoa/ml) were enrolled in the study. Forty patients were excluded from the study: ten because they were diagnosed with cytogenetic abnormality and thirty patients were diagnosed with other known causes of infertility. The control group consisted of 150 men who fathered at least one child in the last two years. Genomic DNA was extracted from peripheral blood samples and two multiplex polymerase chain reactions (PCR) analyses were performed using specific primers to confirm the presence or absence of Y chromosome microdeletions. Microdeletions were detected in 12 of 120 (10%) cases, while no deletions were detected in the control group. Of total number of 12 deletions, nine were detected in AZFc region (75%), one in AZF...Continue Reading

References

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