title: Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level.
abstract: Amplification of the beta-globin gene by the polymerase chain reaction (PCR) and direct sequencing were used for a fast and reliable identification of the beta-globin variant Hb D Los Angeles and revealed the predicted G----C substitution in codon 121. The same method showed the molecular defect in Hb Presbyterian to be a C----G substitution in codon 108; this eliminates a MaeII restriction site.
authors.affiliation: Institut für Humangenetik der Universität, Münster, Federal Republic of Germany.
authors.forename: J
authors.initials: J
authors.lastname: Schnee
authors.forename: C
authors.initials: C
authors.lastname: Aulehla-Scholz
authors.forename: A
authors.initials: A
authors.lastname: Eigel
authors.forename: J
authors.initials: J
authors.lastname: Horst
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000235:genetics*; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction
chemical_list: D006455:Hemoglobins, Abnormal; C017361:hemoglobin Presbyterian; D005914:Globins; D004247:DNA; C026237:hemoglobin D Punjab