Article
Hb Costa Rica or alpha 2 beta 2 77(EF1)His --> Arg: the first example of a somatic cell mutation in a globin gene.
Human genetics - 1 Jun 1996
Rodriguez Romero W E, Castillo M, Chaves M A, Saenz G F, Gu L H, Wilson J B, Baysal E, Smetanina N S, Leonova J Y, Huisman T H
Abstract excerpt
We have identified a minor hemoglobin component (approximately 5%) in the blood of a healthy Costa Rican female, but not in her mother and two brothers (father not studied), that has an His --> Arg replacement at position beta 77 (Hb Costa Rica). No other amino acid replacements were observed and...
Topics
- Adult
- Amino Acid Sequence
- Amino Acids
- Base Sequence
- Codon
- Costa Rica
- DNA, Complementary
- Female
- Genetic Variation
- Hemoglobins, Abnormal
- Humans
- Male
- Molecular Sequence Data
- Mosaicism
- Point Mutation
- RNA, Messenger
- Reticulocytes
- Sequence Analysis, DNA