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Hum. Reprod. Advance Access originally published online on August 25, 2005
Human Reproduction 2005 20(12):3505-3509; doi:10.1093/humrep/dei254
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© The Author 2005. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org

Y chromosome microdeletions: are they implicated in teratozoospermia?

Ali Hellani, Saad Al-Hassan, Adel Al-Duraihim and Serdar Coskun1

Departments of Pathology and Laboratory Medicine, and Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

1 To whom correspondence should be addressed at: King Faisal Specialist Hospital and Research Center, P.O.Box 3354, MBC 10, Riyadh, 11211, Saudi Arabia. E-mail: serdar{at}kfshrc.edu.sa

BACKGROUND: Y chromosome microdeletions are known to impair spermatogenesis. Screenings for these microdeletions are performed mostly in patients with sperm count abnormalities. METHODS: We have screened the Y chromosome of 80 infertile patients with sperm morphological abnormalities. DNA from sperm, peripheral blood or single sperm following multiple displacement amplification (MDA) was utilized to amplify 20 specific sequence-tagged sites (STS) by PCR. RESULTS: Y chromosome microdeletions were detected in sperm DNA from four of the teratozoospermic patients; while none of the 53 men with normal sperm morphology had any deletions. Two of the four patients with deletions also provided peripheral blood and a fresh semen sample. Both patients had none of the STS deleted in the peripheral blood DNA. Y chromosome microdeletion analysis in the MDA amplified SRY-positive single sperm DNA confirmed the presence of the same deletion in all 10 sperm for one patient and eight out of 10 sperm in the second patient. CONCLUSIONS: Our observations suggest that some of the teratozoospermia might be related to gonadal mosaic Y chromosome microdeletions. Gonadal mosaicism can be a source of de novo transmissions of Y chromosome microdeletions. The application of MDA can yield enough DNA from a single sperm for genetic analyses.

Key words: germinal mosaic/microdeletion/multiple displacement amplification/teratozoospermia/Y chromosome


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