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Molecular Human Reproduction Vol. 1, NUMBER 2 pp. 59-62, 1995
© European Society of Human Reproduction and Embryology 1995


research-article

DNA-based X-enriched sperm separation as an adjunct to preimplantation genetic testing for the prevention of X-linked disease

Gene Levinson1,2,4, Keyvan Keyvanfar1, Joy C. Wu1, Edward F. Fugger1,3, Rita A. Fields1, Gary L. Harton1, Frances T. Palmer1, Michael E. Sisson1, Karin M. Starr1, Lisa Dennison-Lagos1, Lucrecia Calvo1, Richard J. Sherins1, David Bick1,2, Joseph D. Schulman1,2 and Susan H. Black1,3

1Genetics & IVF Institute 3020 Javier Road, Fairfax, VA 22031, USA 2Department of Human Genetics Richmond, VA, USA 3Department of Obstetrics and Gynecology, Medical College of Virginia Richmond, VA, USA

To whom correspondence should be addressed at: 4To whom correspondence should be addressed

We report the world's first clinical pregnancy resulting from DNA-based enrichment for X-bearing human spermatozoa, for prevention of X-linked hydrocephalus. Sperm separation was followed by embryo biopsy and nested multiplex polymerase chain reaction (PCR) for gender determination. Enriched populations of X-bearing spermatozoa ranging from 80 to 89% pure as determined by fluorescence in-srtu hybridization (FISH) resulted in in-vitro fertilization (IVF) rates indistinguishable from normal IVF procedures (65%). In two separate biopsy procedures, 7/9 and 15/16 of the resulting embryos were determined to be female by multiplex PCR. Embryo transfer resulted in a karyotypically normal female fetus. This technique should be widely applicable to gender selection for the prevention of genetic disorders.

flow cytometry/fluorescence in-situ hybridization/gender selection/hereditary diseases/spermatozoa


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