title: Fetal gender determination and BclI polymorphism using nucleated erythrocytes in maternal blood.
abstract: This study demonstrated determination of fetal gender from nucleated red blood cells (NRBCs) in maternal blood and attempted to apply prenatal diagnosis of hemophilia A using BclI DNA polymorphism. Venous blood was drawn from 20 pregnant women, and NRBCs were recovered by magnetic activated cell sorting and anti-GPA (glycophorin A) immunostaining. After microdissector isolation of the NRBCs, primer extension preamplification (PEP) and nested PCR of the amelogenin gene were performed to determine fetal gender. We also performed PEP and nested PCR of BclI polymorphism to verify the validity of prenatal diagnosis of hemophilia A. DNA amplification was achieved in 107 cells (51.9%) and fetal gender determined with 65.0% accuracy. Unfortunately, we could not verify the validity within the scope of this study. However, in a larger number of cases that are informative in BclI polymorphism, we will be able to identify patients affected by hemophilia A using fetal NRBCs in maternal blood.
authors.affiliation: 1621-7 Hamchoon Women's Clinic, Seocho-1-dong Seocho-ku, Seoul, Korea. jchoe@hamchoon.com
authors.forename: Jin
authors.initials: J
authors.lastname: Choe
authors.forename: Doyeong
authors.initials: D
authors.lastname: Hwang
authors.forename: Ki-Chul
authors.initials: KC
authors.lastname: Kim
authors.forename: Young-Min
authors.initials: YM
authors.lastname: Choi
mesh_terms: D053523:Amelogenin; D003746:Dental Enamel Proteins / Q000235:genetics; D015252:Deoxyribonucleases, Type II Site-Specific; D004900:Erythroblasts; D005260:Female; D005312:Fetal Blood / Q000166:cytology*; D006021:Glycophorins / Q000378:metabolism; D006467:Hemophilia A / Q000097:blood / Q000175:diagnosis*; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis / Q000379:methods*; D012732:Sex Determination Analysis / Q000379:methods*
chemical_list: D053523:Amelogenin; D003746:Dental Enamel Proteins; D006021:Glycophorins; C041666:endodeoxyribonuclease BclI; D015252:Deoxyribonucleases, Type II Site-Specific