title: [Prenatal diagnosis of Duchenne muscular dystrophy using single fetal cell in maternal blood].
abstract: We developed a method that allows prenatal diagnosis of Duchenne muscular dystrophy using a single nucleated erythrocyte (NRBC) isolated from maternal blood. Maternal blood was obtained at 8 to 20 weeks of gestation. NRBCs were separated with Percoll using a discontinuous density gradient method and then collected by micromanipulator under microscopic observation. The entire genome of a single cell amplified by primer extension preamplification (PEP). Sex was determined from a small aliquot of the PEP reaction. After an NRBC was determined to be male and confirmed to be of fetal origin, dystrophin exons 4, 8, 12, 45, 48, 50, and 51 were determined from the same PEP reaction. This diagnostic method using maternal blood is safer than amniocentesis or cordocentesis and can be applied to other X-linked disease.
authors.affiliation: Department of Obstetrics and Gynecology, Kohnodai Hospital.
authors.forename: T
authors.initials: T
authors.lastname: Kimura
authors.forename: A
authors.initials: A
authors.lastname: Sekizawa
authors.forename: A
authors.initials: A
authors.lastname: Taguti
authors.forename: T
authors.initials: T
authors.lastname: Sato
mesh_terms: D016189:Dystrophin / Q000235:genetics; D004912:Erythrocytes / Q000166:cytology; D005091:Exons; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D017353:Gene Deletion; D005865:Gestational Age; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D016189:Dystrophin