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.
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.
Hutt
P J
PJ
Department of Pediatrics, Mayo Clinic, Rochester, MN 55905, USA.
Pisciotta
A V
AV
Fairbanks
V F
VF
Thibodeau
S N
SN
Green
M M
MM
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
D003062:Codon; C056016:hemoglobin M Akita; D005914:Globins; C027543:hemoglobin M Milwaukee; D006449:Hemoglobin M