title: Prenatal diagnosis of alpha-1-antitrypsin deficiency using polymerase chain reaction (PCR). Comparison of conventional RFLP methods with PCR used in combination with allele specific oligonucleotides or RFLP analysis.
abstract: Prenatal diagnosis of alpha 1-antitrypsin (AAT) deficiency can be performed in the 1st trimester of pregnancy. These diagnoses have been based on DNA technology using either RFLP analysis or hybridization with allele specific oligonucleotides. Several RFLPs within and flanking the AAT gene have been found to render most families informative. The polymerase chain reaction allows specific DNA sequences to be amplified up to ten million fold. Both sequences containing a specific mutation or an RFLP can be amplified by this method. We have compared conventional RFLP methods with PCR used in combination with allele specific oligonucleotides or RFLP analysis, in a case of prenatal diagnosis of AAT deficiency of the ZZ type.
authors.affiliation: Department of Pediatrics, University Hospital, Rigshospitalet, Copenhagen, Denmark.
authors.forename: M
authors.initials: M
authors.lastname: Schwartz
authors.forename: K B
authors.initials: KB
authors.lastname: Petersen
authors.forename: N
authors.initials: N
authors.lastname: Gregersen
authors.forename: K
authors.initials: K
authors.lastname: Hinkel
authors.forename: C R
authors.initials: CR
authors.lastname: Newton
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D002648:Child; D015193:Chorionic Villi Sampling / Q000379:methods*; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005260:Female; D005784:Gene Amplification; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009679:Nuclear Family; D009841:Oligonucleotides / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D009841:Oligonucleotides; D004259:DNA-Directed DNA Polymerase