title: Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.
abstract: Propionic acidaemia (PA) is an autosomal recessive disease caused by a genetic deficiency of propionyl-CoA carboxylase (PCC). Defects in the PCCA and PCCB genes that code for the alpha and beta subunits of PCC, respectively, are responsible for PA. A proband with PA was previously shown to carry the c1170insT mutation and the private L519P mutation in the PCCB gene. Here we report the prenatal diagnosis of an affected fetus based on DNA analysis in chorionic villus tissue. We have also assessed the carrier status in this PCCB deficient family, which was not possible with biochemical analysis.
authors.affiliation: Centro de Diagnóstico de Enfermedades Moleculares, Departamento de Biología Molecular, CBMSO, Universidad Autónoma de Madrid, Spain.
authors.forename: S
authors.initials: S
authors.lastname: Muro
authors.forename: C
authors.initials: C
authors.lastname: Perez-Cerdá
authors.forename: P
authors.initials: P
authors.lastname: Roddríguez-Pombo
authors.forename: B
authors.initials: B
authors.lastname: Pérez
authors.forename: P
authors.initials: P
authors.lastname: Briones
authors.forename: A
authors.initials: A
authors.lastname: Ribes
authors.forename: M
authors.initials: M
authors.lastname: Ugarte
mesh_terms: D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D002262:Carboxy-Lyases / Q000235:genetics*; D002824:Chorionic Villi; D004247:DNA / Q000032:analysis*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D043586:Methylmalonyl-CoA Decarboxylase; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011422:Propionates / Q000097:blood*
chemical_list: D011422:Propionates; D004247:DNA; D002262:Carboxy-Lyases; D043586:Methylmalonyl-CoA Decarboxylase