DNA-SEQUENCE ANALYSIS PROVES HB-M MILWAUKEE-2 IS DUE TO BETA-GLOBIN GENE CODON-92 ((C)UNDER-BAR-AC-](T)UNDER-BAR-AC), THE PRESUMED MUTATIONOF HB-M-HYDE-PARK AND HB-M-AKITA

Authors
HUTT PJ PISCIOTTA AV FAIRBANKS VF THIBODEAU SN GREEN MM
Citation
Pj. Hutt et al., DNA-SEQUENCE ANALYSIS PROVES HB-M MILWAUKEE-2 IS DUE TO BETA-GLOBIN GENE CODON-92 ((C)UNDER-BAR-AC-](T)UNDER-BAR-AC), THE PRESUMED MUTATIONOF HB-M-HYDE-PARK AND HB-M-AKITA, Hemoglobin, 22(1), 1998, pp. 1-10
Citations number
20
Categorie Soggetti
Biology,Hematology
Journal title
Hemoglobin → ACNP
ISSN journal
03630269
Volume
22
Issue
1
Year of publication
1998
Pages
1 - 10
Database
ISI
SICI code
0363-0269(1998)22:1<1:DAPHMI>2.0.ZU;2-5
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 analy sis, as here reported, proves that this hemoglobin variant is due to t he mutation CAC-->TAC at codon 92 of the beta-globin gene, correspondi ng to the substitution of tyrosine for histidine. This mutation is ide ntical with that presumed to be the cause of Hb M-Hyde Park and Hb M-A kita. In addition, the DNA mutation of Hb E, GAG-->AAG at codon 26, wa s confirmed in this case.