Abstract
Data are reported for an 85-year-old black male who had an HPFH condition and a suspected 'δ-thalassemia' on the other. Sequence analysis of amplified DNA of an appropriate segment of the δ-globin gene identified a GTG to GTG mutation for codon 98 and thus a Val → Met replacement in the δ chain. This abnormality was confirmed by hybridization of amplified DNA with 12P-labeled synthetic probes and by the amino-acid composition of the isolated tryptic peptide δT-11. Thus, the 'δ-thalassemia' is caused by the presence of an Hb A2 variant that is considered to be unstable to a similar extent as is Hb Köln, its β chain counterpart.
Original language | English (US) |
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Pages (from-to) | 87-89 |
Number of pages | 3 |
Journal | BBA - Gene Structure and Expression |
Volume | 1009 |
Issue number | 1 |
DOIs | |
State | Published - Sep 21 1989 |
Keywords
- DNA amplification
- Delta variant
- Hemoglobin
- Peptide analysis
- Sequencing
- Unstable hemoglobin
- δ-Thalassemia
ASJC Scopus subject areas
- Structural Biology
- Biophysics
- Biochemistry
- Genetics