Submicroscopic deletions in the Y chromosome of infertile men. Sarah K.Girardi1, Anna Mielnik2 and Peter differentiation [the testis determining factor (TDF) or ...
Human Reproduction vol.12 no.8 pp.1635–1641, 1997
Submicroscopic deletions in the Y chromosome of infertile men
Sarah K.Girardi1, Anna Mielnik2 and Peter N.Schlegel1,2,3 1James
Buchanan Brady Foundation, Department of Urology, The New York Hospital-Cornell Medical Center, and 2The Population Council, Center for Biomedical Research, New York, New York, USA 3To
whom correspondence should be addressed at: Room F-905A, Dept. of Urology, The New York Hospital-Cornell Medical Center, 525 East 68th Street, New York, NY 10021, USA
Recent investigations have suggested a high prevalence of Y chromosome submicroscopic deletions in men with severely impaired spermatogenesis. We evaluated the frequency of Y chromosome deletions in 160 infertile men using a series of 36 sequence-tagged-sites, emphasizing intervals 5 and 6 of the long arm of the Y chromosome. Peripheral leukocyte DNA was extracted and amplified with two parallel techniques to minimize potential overestimation of the frequency of deletions. The presence of deletions was evaluated relative to patient’s sperm concentration, testis volume, and hormonal parameters. Men with sperm concentration
