title: TGGE and HIEF: a comparison of two methods in the detection of carriers of the Z mutation in the alpha-1-antitrypsin gene.
abstract: Alpha-1-antitrypsin (alpha-1-AT) deficiency can lead to juvenile liver cirrhosis and lung emphysema in adulthood. The deficiency Z allele is caused by a base transition. Temperature gradient gel electrophoresis (TGGE) and hybrid isoelectric focusing (HIEF) were used to detect carriers of the Z mutation of the alpha-1-AT gene. The resulting data were compared. To verify carriers at the sequence level, a manual nonradioactive sequencing strategy was established. Among our sample of carriers of the Z mutation, two were not detected by HIEF that could be identified by TGGE. DNA of all TGGE identified individuals harboring the Z mutation of the alpha-1-AT gene were sequenced nonradioactively. All carriers harbored a G to A transition at position 11.940. This mutation is described to cause the altered protein.
authors.affiliation: Institut für Anthropologie und Humangenetik, Tübingen, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Hinney
authors.forename: C
authors.initials: C
authors.lastname: Dürr
authors.forename: C
authors.initials: C
authors.lastname: Luckenbach
authors.forename: H
authors.initials: H
authors.lastname: Ritter
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods*; D006580:Genetic Carrier Screening / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D007525:Isoelectric Focusing / Q000379:methods*; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D013696:Temperature; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D017931:DNA Primers; D000515:alpha 1-Antitrypsin