Abstract
Genomic DNA of a patient diagnosed with nonobstructive azoospermia and with the history of allogenic bone marrow transplantation from his sister due to chronic myeloid leukemia was isolated from peripheral blood in order to screen Y chromosome microdeletions. 13 short tagged sites belonging to AZF a, b, and c loci were detected with multiplex polymerase chain reaction technique. Bands were determined in ZFX/ZFY wells, whereas no bands were determined in wells of other STS regions. DNA isolation was done from buccal mucosa smear to obtain genomic DNA from patient's own cells and multiplex polymerase chain reaction technique was performed again. Bands were seen in all wells of 13 STS regions. Y chromosome microdeletion was not detected in the patient. In conclusion, genomic DNA isolation in patients undergoing BMT should be done from patients' own cells.
Highlights
Infertility affects approximately 10–15% of couples, and male factor infertility represents almost 50% of cases [1]
When the results of electrophoresis were investigated with UV transilluminator, band patterns were detected only in ZFX/ZFY wells of all 3 polymerase chain reaction (PCR) mixes
Isolated genomic DNA was evaluated with NanoDrop spectrophotometer (NanoDrop, Thermo Scientific, USA) to detect the density of this sample. 1 μL DNA of patient was defined as 11.06 ng and rate
Summary
Infertility affects approximately 10–15% of couples, and male factor infertility represents almost 50% of cases [1]. Among infertile men about 40–50% have azoospermia and severe oligozoospermia. Genetic abnormalities may cause infertility by affecting sperm production or sperm transport. These abnormalities are numerical (e.g., trisomy) and structural (e.g., inversions or translocations) chromosomal abnormalities, Y chromosome microdeletions, and gene mutations (e.g., cystic fibrosis). The frequencies of genetic abnormalities vary between 10–15% in oligozoospermic and azoospermic patients [2]. Because of this high prevalence, it is important to investigate the chromosomal abnormalities in these patients
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