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Direct detection of disomy in human sperm by the PRINS technique
Authors:Franck Pellestor  Isabelle Quennesson  Lionel Coignet  Anne Girardet  Brigitte Andréo  Jean Paul Charlieu
Institution:(1) CNRS UPR 9008, Route de Mende, BP 5051, F-34033 Montpellier cedex 2, France;(2) MRC Human Genetics Unit, Western General Hospital, Crewe Road, EH4 2XU Edinburgh, UK
Abstract:We report the use of the PRimedIN Situ (PRINS) labelling technique for the direct estimation of disomy rates for various chromosomes in human sperm. The PRINS technique provides a rapid and reliable method for chromosome screening since specific labelling may be obtained in less than 2 h. In the present study, the disomy rates of chromosomes 2, 5, 9, 12 and 18 were investigated. The incidences of disomy are similar for all these chromosomes, ranging from 0.27% to 0.33%. These findings suggest an equal distribution of aneuploidies among autosomes in human sperm.
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