title: Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing.
abstract: The discovery of circulating fetal DNA in maternal blood has been an encouraging step forward in the prenatal diagnostic field. It has opened up the possibility of development of a noninvasive method for the genetic analysis of the fetus. Many techniques have been applied to the study of this fetal DNA, but automated sequencing has been seldom used. The intention of this study was to use the automated sequencing technique for the detection of a paternally inherited fetal mutation in maternal plasma. Maternal plasma samples from a pregnant woman, whose husband had a mutation (Q134X) in the RP2 gene, which is located in the X-chromosome, were collected at two different gestational ages (10th and 19th week of gestation) in order to determine whether the paternally inherited fetal mutation could be detected by automated sequencing. Restriction analysis was also performed to confirm the results. The fetal mutation was clearly detected in the maternal plasma by the use of automated sequencing. The automated sequencing enables the possibility of analyzing fetal sequences, at a nucleotide level, in order to detect mutations or polymorphisms which are distinguishable from maternal sequences.
authors.affiliation: Department of Genetics, Fundacion Jimenez Diaz, Avda. Catolicos 2, 2840 Madrid, Spain. abustamente@fjd.es
authors.forename: Ana
authors.initials: A
authors.lastname: Bustamante-Aragones
authors.forename: Maria
authors.initials: M
authors.lastname: Garcia-Hoyos
authors.forename: Marta
authors.initials: M
authors.lastname: Rodriguez DE Alba
authors.forename: Cristina
authors.initials: C
authors.lastname: Gonzalez-Gonzalez
authors.forename: Isabel
authors.initials: I
authors.lastname: Lorda-Sanchez
authors.forename: Dan
authors.initials: D
authors.lastname: Diego-Alvarez
authors.forename: M Jose
authors.initials: MJ
authors.lastname: Trujillo-Tiebas
authors.forename: Carmen
authors.initials: C
authors.lastname: Ayuso
authors.forename: Carmen
authors.initials: C
authors.lastname: Ramos
mesh_terms: D001483:Base Sequence; D041321:Chromosomes, Human, X / Q000235:genetics; D004247:DNA / Q000097:blood*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005220:Fathers; D005260:Female; D005333:Fetus / Q000502:physiology*; D019204:GTP-Binding Proteins; D005865:Gestational Age; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics
chemical_list: D005136:Eye Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C072178:RP2 protein, human; D004247:DNA; D019204:GTP-Binding Proteins