title: Hemoglobin Pasadena: identification of the gene mutant by DNA analysis using synthetic DNA probes.
abstract: Hemoglobin Pasadena [beta 75(E19)Leu----Arg] was found in a boy who had an acute episode of anemia and rapid splenic enlargement. His father was the only other member of a large family with this hemoglobinopathy. We have used gene mapping techniques for direct identification of the beta-globin gene mutation. To correlate the DNA findings with the structural identification of this variant, we have also performed globin chain separation and analysis of the tryptic peptides using high performance liquid chromatography and secondary ion mass spectral analysis.
authors.affiliation: Department of Hematology and Bone Marrow Transplantation, City of Hope National Medical Center, Duarte, CA 91010.
authors.forename: S
authors.initials: S
authors.lastname: Rahbar
authors.forename: R
authors.initials: R
authors.lastname: Rosen
authors.forename: G
authors.initials: G
authors.lastname: Nozari
authors.forename: T D
authors.initials: TD
authors.lastname: Lee
authors.forename: Y
authors.initials: Y
authors.lastname: Asmerom
authors.forename: R B
authors.initials: RB
authors.lastname: Wallace
mesh_terms: D000328:Adult; D002648:Child; D002851:Chromatography, High Pressure Liquid; D004247:DNA / Q000032:analysis* / Q000138:chemical synthesis; D005796:Genes; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D013058:Mass Spectrometry; D009154:Mutation
chemical_list: D006455:Hemoglobins, Abnormal; C035044:hemoglobin Pasadena; D004247:DNA