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Hemoglobin Ozieri: a new α-chain variant (α71(E20)Ala → Val). Characterization using FAB- and electrospray-mass spectrometric techniques
- Source :
- Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology. 1162:203-208
- Publication Year :
- 1993
- Publisher :
- Elsevier BV, 1993.
-
Abstract
- A new silent hemoglobin variant, Hb Ozieri (alpha 71(E20)Ala-->Val), was observed in five apparently unrelated newborn babies during a screening for hemoglobinopathies on the island of Sardinia. This asymptomatic variant was detected by means of isoelectric focusing (IEF), isolated using IEF in an immobilized ultranarrow pH-gradient and characterized at the structural level using FAB- and electrospray-mass spectrometric techniques. A Val for Ala substitution was unambiguously detected at position 71 of the alpha-globin chain. This substitution indicates that a C to T transition occurred in the GCG codon for Ala which contains one of the 35 unmethylated CpG dinucleotides of the alpha-globin gene. This observation brings the number of variants due to a mutation in the alpha-globin gene CpGs (the third instance of a silent mutation) to 13 and raises the possibility that unmethylated CpGs might be hotspots for mutations as the methylated ones.
- Subjects :
- Silent mutation
Electrospray
Hemeprotein
Hemoglobins, Abnormal
Biophysics
Biochemistry
Mass Spectrometry
Structural Biology
Humans
Molecular Biology
Gene
Alanine
Base Sequence
Isoelectric focusing
Chemistry
Infant, Newborn
Hemoglobin variants
Valine
Fetal Blood
Globins
Hemoglobinopathies
Italy
CpG site
Mutation
Hemoglobin
Isoelectric Focusing
Subjects
Details
- ISSN :
- 01674838
- Volume :
- 1162
- Database :
- OpenAIRE
- Journal :
- Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology
- Accession number :
- edsair.doi.dedup.....e8a8d430a5ea3d5b4514a72c0e5ab262