title: Amplification of X- and Y-chromosome-specific regions from single human blastomeres by polymerase chain reaction for sexing of preimplantation embryos.
abstract: We describe a polymerase chain reaction (PCR) assay for the simultaneous detection of X and Y chromosomes in human blastomeres. In a first round of PCR, both X- and Y-specific fragments are amplified with primers which are common to both chromosomes and are derived from the X-linked steroid sulphatase gene and the Y-linked pseudogene. In a second round of PCR, fragments specific to each chromosome are generated: both an X and a Y fragment in male embryos and, due to the absence of a Y chromosome, only an X fragment in females. The efficiency and accuracy of this assay are high; it generates no false positive amplification signals and allows sexing in approximately 6 h after embryo biopsy. We therefore believe that it is suitable for gender determination by preimplantation diagnosis for couples at risk for X-linked genetic diseases.
authors.affiliation: Centre for Reproductive Medicine, University Hospital, Vrije Universiteit Brussel, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Liu
authors.forename: W
authors.initials: W
authors.lastname: Lissens
authors.forename: P
authors.initials: P
authors.lastname: Devroey
authors.forename: A
authors.initials: A
authors.lastname: Van Steirteghem
authors.forename: I
authors.initials: I
authors.lastname: Liebaers
mesh_terms: D001483:Base Sequence; D001757:Blastomeres / Q000648:ultrastructure*; D047108:Embryonic Development; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D012732:Sex Determination Analysis / Q000379:methods*; D014960:X Chromosome; D014998:Y Chromosome