title: [Analysis of alpha 1-antitrypsin deficiency using DNA methods].
abstract: Deficiency of alpha 1-antitrypsin can be diagnosed by DNA methods that are quick and also give reproducible results. Direct DNA analysis of the M, S, and Z alleles of the alpha 1-antitrypsin gene is possible when two molecular biology techniques are combined: a part of the gene is enzymatically replicated according to the pattern of the human DNA that is to be investigated. On hybridization with the various allele-specific pieces of synthetic DNA the copies that have come about in this way give a signal corresponding to the genotype. Only a small amount of material (0.5 microgram DNA) is needed for the investigation. This method is thus suitable for prenatal diagnosis when this is requested by members of a family known to be affected. A total of 53 samples were typed and investigations were carried out in six families.
authors.affiliation: Institut für Humangenetik, Universität Göttingen.
authors.forename: U
authors.initials: U
authors.lastname: Wick
authors.forename: P
authors.initials: P
authors.lastname: Kühnl
authors.forename: W
authors.initials: W
authors.lastname: Engel
mesh_terms: D000483:Alleles; D004247:DNA / Q000235:genetics*; D005091:Exons; D015750:Genes, gag; D006579:Heterozygote; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D000515:alpha 1-Antitrypsin; D004247:DNA
vernacular_title: Analyse der alpha 1-Antitrypsin-Defizienz durch DNA-Methoden.