title: Accurate multiplex polymerase chain reaction assay for gender determination from a single cell.
abstract: For gender determination of preimplantation embryos or circulating fetal cells in maternal blood, we developed a multiplex polymerase chain reaction assay from a single cell. This assay which co-amplifies X (DXZ1)- and Y (DYZ1)-specific repeat sequences, yields a 308-bp band in females and two bands of 154 and 308 bp in males. In a randomized, blinded assay of 100 isolated single amniocytes, 99 (99%) were amplified successfully. All 50 of the XY cells were correctly diagnosed as male (100%), whereas 49 of the 50 XX cells were diagnosed as female (98%). This accurate and efficient assay may be applicable in these clinical settings.
authors.affiliation: Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Hashiba
authors.forename: K
authors.initials: K
authors.lastname: Sueoka
authors.forename: M
authors.initials: M
authors.lastname: Kuroshima
authors.forename: H
authors.initials: H
authors.lastname: Asada
authors.forename: N
authors.initials: N
authors.lastname: Kuji
authors.forename: Y
authors.initials: Y
authors.lastname: Yoshimura
mesh_terms: D000653:Amniotic Fluid / Q000166:cytology; D005260:Female; D005333:Fetus / Q000166:cytology*; D006801:Humans; D007621:Karyotyping; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA; D019849:Sex Determination Processes