Human reproduction (Oxford, England) · 2005
Y chromosome microdeletions: are they implicated in teratozoospermia?
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Hellani Ali, Al-Hassan Saad, Al-Duraihim Adel, Coskun Serdar
Аннотация
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.
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.