Article
[Hb M-Iwate [alpha 87 (F8) His-->Tyr]: analysis of the genomic DNA and biosynthesis].
Rinsho byori. The Japanese journal of clinical pathology - 1 Mar 1995
Orisaka M, Sasaki T, Kato J, Harano K, Harano T
Abstract excerpt
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...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Cyanosis
- Female
- Hemoglobin M
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Reticulocytes
