title: DNA sequence analysis proves Hb M-Milwaukee-2 is due to beta-globin gene codon 92 (CAC-->TAC), the presumed mutation of Hb M-Hyde Park and Hb M-Akita.
abstract: Among the causes of congenital methemoglobinemia, Hb M-Milwaukee-2 was one of the earliest described, in a patient who also had Hb E trait. The structure of Hb M-Milwaukee-2 has been elusive. DNA sequence analysis, as here reported, proves that this hemoglobin variant is due to the mutation CAC-->TAC at codon 92 of the beta-globin gene, corresponding to the substitution of tyrosine for histidine. This mutation is identical with that presumed to be the cause of Hb M-Hyde Park and Hb M-Akita. In addition, the DNA mutation of Hb E, GAG-->AAG at codon 26, was confirmed in this case.
authors.affiliation: Department of Pediatrics, Mayo Clinic, Rochester, MN 55905, USA.
authors.forename: P J
authors.initials: PJ
authors.lastname: Hutt
authors.forename: A V
authors.initials: AV
authors.lastname: Pisciotta
authors.forename: V F
authors.initials: VF
authors.lastname: Fairbanks
authors.forename: S N
authors.initials: SN
authors.lastname: Thibodeau
authors.forename: M M
authors.initials: MM
authors.lastname: Green
mesh_terms: D000328:Adult; D000368:Aged; D003062:Codon; D005260:Female; D005914:Globins / Q000737:chemistry / Q000235:genetics*; D006449:Hemoglobin M / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D017422:Sequence Analysis, DNA
chemical_list: D003062:Codon; C056016:hemoglobin M Akita; D005914:Globins; C027543:hemoglobin M Milwaukee; D006449:Hemoglobin M