[Hb M-Iwate [alpha 87 (F8) His-->Tyr]: analysis of the genomic DNA and biosynthesis].
Hb M-Iwate [alpha 87 (F8) His-->Tyr] was identified as the cause of cyanosis in a 21-year-old Japanese female. Amplification and sequencing of the alpha 2- and alpha 1-genes demonstrated the mutation CD87 CAC (His)-->TAC (Tyr) in the alpha 2-gene. Analysis of the in vitro globin biosynthesis in the reticulocytes disclosed a well-balanced beta/alpha synthetic ratio of 1.04 but an unexpectedly low alpha M/total alpha. Although the cause of the lowered alpha M-globin biosynthesis is not yet clear, it might be related to a defect in chain assembly rather than to a modified stability or a reduced amount of the abnormal alpha-globin mRNA.
Orisaka
M
M
Iwate Health Service Association, Morioka.
Sasaki
T
T
Kato
J
J
Harano
K
K
Harano
T
T
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003490:Cyanosis / Q000235:genetics; D005260:Female; D006449:Hemoglobin M / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D012156:Reticulocytes / Q000378:metabolism
C027542:hemoglobin M Iwate; D006449:Hemoglobin M