A new polymorphism (G→A) in the ψζ1 globin gene

A. Villegas, E. Anguita, N. Noguera, F. Ataulfo Gonzalez, P. Ropero, J. Sanchez, A. C. Milani, D. Espinos, D. Bowden, D. Higgs

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Background and Objectives. α-globin cluster polymorphism are obtained with specific restriction enzymes (Xba I, Eco RL Sac I, Apa I, BgI II, etc) that can also have implications for genetic analysis. Design and Methods. We studied three unrelated patients; one from Argentina, one from Spain and one from Australia but of Polish origin. Genomic DNA was digested with several different restriction enzymes and probes, amplified and sequenced with an ABI Prism 310 sequencer. Results. Three patients had and abnormal 26 kb band when their DNA was studied with restriction enzyme BgI II and ζ probe. A fragment of 944 bp was amplified with primers that cover from -280 to + 714 bp of the recognition sequence of BgI II enzyme (AGATCT) localized 5' from pseudogene ζ1. After digestion of this PCR product with BgI II two fragments of 714 and 2800 bp were produced in normal controls, whereas in patient 1 the PCR fragment was undigested and in patients 2 and 3 both undigested and digested fragments were observed. Sequencing of the PCR fragment showed that in all three patients of was the same polymorphism (G→A) at nucleotide 153171 of the 16 p sequence found in the BgI II recognition site that change to AAATCT. Interpretation and Conclusions. We describe a new polymorphism in the ψζ1 first exon BgI II restriction site (G→A). The polymorphisms is associated in cis with haplotype -α3.7. The fragment obtained by PCR enabled us to corroborate the presence of the polymorphism quickly without having to use complicated sequencing techniques. (C) 2000, Ferrata Storti Fondation.

Original languageEnglish
Pages (from-to)899-901
Number of pages3
JournalHaematologica
Volume85
Issue number9
Publication statusPublished - 2000

Fingerprint

Globins
Polymerase Chain Reaction
Genes
Enzymes
Pseudogenes
DNA
Argentina
Spain
Haplotypes
Digestion
Exons
Nucleotides
G(A1) ganglioside

Keywords

  • BgI II enzyme
  • Hb H disease
  • Polymorphism
  • Thalassemia

ASJC Scopus subject areas

  • Hematology

Cite this

Villegas, A., Anguita, E., Noguera, N., Ataulfo Gonzalez, F., Ropero, P., Sanchez, J., ... Higgs, D. (2000). A new polymorphism (G→A) in the ψζ1 globin gene. Haematologica, 85(9), 899-901.

A new polymorphism (G→A) in the ψζ1 globin gene. / Villegas, A.; Anguita, E.; Noguera, N.; Ataulfo Gonzalez, F.; Ropero, P.; Sanchez, J.; Milani, A. C.; Espinos, D.; Bowden, D.; Higgs, D.

In: Haematologica, Vol. 85, No. 9, 2000, p. 899-901.

Research output: Contribution to journalArticle

Villegas, A, Anguita, E, Noguera, N, Ataulfo Gonzalez, F, Ropero, P, Sanchez, J, Milani, AC, Espinos, D, Bowden, D & Higgs, D 2000, 'A new polymorphism (G→A) in the ψζ1 globin gene', Haematologica, vol. 85, no. 9, pp. 899-901.
Villegas A, Anguita E, Noguera N, Ataulfo Gonzalez F, Ropero P, Sanchez J et al. A new polymorphism (G→A) in the ψζ1 globin gene. Haematologica. 2000;85(9):899-901.
Villegas, A. ; Anguita, E. ; Noguera, N. ; Ataulfo Gonzalez, F. ; Ropero, P. ; Sanchez, J. ; Milani, A. C. ; Espinos, D. ; Bowden, D. ; Higgs, D. / A new polymorphism (G→A) in the ψζ1 globin gene. In: Haematologica. 2000 ; Vol. 85, No. 9. pp. 899-901.
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AU - Anguita, E.

AU - Noguera, N.

AU - Ataulfo Gonzalez, F.

AU - Ropero, P.

AU - Sanchez, J.

AU - Milani, A. C.

AU - Espinos, D.

AU - Bowden, D.

AU - Higgs, D.

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