Hb A2-Wrens or α2δ298(FG5)Val → MEt, an unstable δ chain variant identified by sequence analysis of amplified DNA

John F. Codrington, Ferdane Kutlar, Herman F. Harris, Jerry B. Wilson, Terrance A. Stoming, Titus H.J. Huisman

Research output: Contribution to journalArticle

18 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)87-89
Number of pages3
JournalBBA - Gene Structure and Expression
Volume1009
Issue number1
DOIs
StatePublished - Sep 21 1989

Fingerprint

Thalassemia
DNA Sequence Analysis
Peptide T
Globins
DNA
Codon
Genes
Amino Acids
Mutation
Chemical analysis
hemoglobin A2 Wrens
hemoglobin A2'

Keywords

  • DNA amplification
  • Delta variant
  • Hemoglobin
  • Peptide analysis
  • Sequencing
  • Unstable hemoglobin
  • δ-Thalassemia

ASJC Scopus subject areas

  • Structural Biology
  • Biophysics
  • Biochemistry
  • Genetics

Cite this

Hb A2-Wrens or α2δ298(FG5)Val → MEt, an unstable δ chain variant identified by sequence analysis of amplified DNA. / Codrington, John F.; Kutlar, Ferdane; Harris, Herman F.; Wilson, Jerry B.; Stoming, Terrance A.; H.J. Huisman, Titus.

In: BBA - Gene Structure and Expression, Vol. 1009, No. 1, 21.09.1989, p. 87-89.

Research output: Contribution to journalArticle

Codrington, John F. ; Kutlar, Ferdane ; Harris, Herman F. ; Wilson, Jerry B. ; Stoming, Terrance A. ; H.J. Huisman, Titus. / Hb A2-Wrens or α2δ298(FG5)Val → MEt, an unstable δ chain variant identified by sequence analysis of amplified DNA. In: BBA - Gene Structure and Expression. 1989 ; Vol. 1009, No. 1. pp. 87-89.
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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 K{\"o}ln, its β chain counterpart.",
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AU - Codrington, John F.

AU - Kutlar, Ferdane

AU - Harris, Herman F.

AU - Wilson, Jerry B.

AU - Stoming, Terrance A.

AU - H.J. Huisman, Titus

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AB - 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.

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