title: Prenatal diagnosis of alpha-1-antitrypsin deficiency by PCR of linked polymorphisms: a study of 17 cases.
abstract: We describe our experiences of prenatal diagnosis of alpha-1-antitrypsin deficiency using closely linked polymorphisms detected by Southern blotting and the polymerase chain reaction. Prenatal diagnosis was carried out for 17 pregnancies from 15 couples.
authors.affiliation: Department of Genetics and Biometry, University College London, U.K.
authors.forename: C M
authors.initials: CM
authors.lastname: Abbott
authors.forename: J U
authors.initials: JU
authors.lastname: Lovegrove
authors.forename: D B
authors.initials: DB
authors.lastname: Whitehouse
authors.forename: D A
authors.initials: DA
authors.lastname: Hopkinson
authors.forename: S
authors.initials: S
authors.lastname: Povey
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D015193:Chorionic Villi Sampling; D005091:Exons; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis; D019896:alpha 1-Antitrypsin Deficiency