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[Testing of G----A mutation in position 110 of a minor intron of beta-globin genes in patients with thalassemia in Azerbaijan].

Abstract
A point mutation G-A in the 110 position of the beta-globin gene small intron has been revealed by cloning and sequencing from the material of a homozygote beta-thalassemia patient in Azerbaijan. In the present study two allele-specific oligonucleotide probes for testing the mutation have been synthesized. Assessment frequency of the mutation among the beta-thalassemia patients in Azerbaijan has been performed with the use of the amplified beta-globin gene fragments obtained by using the thermostable DNA-polymerase from T. thermophilus with the subsequent dot-hybridization in gel of the amplified material with the oligonucleotide probes. The possibility to test the mutation by hybridization of the oligonucleotide probes with the donors and beta-thalassemia patients restricted genomic DNA has been analyzed. Only one of 50 thalassemia alleles of beta-globin genes under study has been shown to possess the mutation mentioned.
AuthorsA N Fedorov, E M Rasulov, T S Oretskaia, I V Lebedeva, M G Ivanovskaia, Z A Shabarova, S A Limborskaia
JournalMolekuliarnaia genetika, mikrobiologiia i virusologiia (Mol Gen Mikrobiol Virusol) Issue 1 Pg. 18-22 (Jan 1990) ISSN: 0208-0613 [Print] Russia (Federation)
Vernacular TitleTestirovanie mutatsii G----A v 110-m polozhenii malogo introna beta-globinovogo gena u bol'nykh talassemieĭ iz Azerbaĭdzhana.
PMID2139713 (Publication Type: English Abstract, Journal Article)
Chemical References
  • Oligonucleotide Probes
  • Globins
Topics
  • Azerbaijan (epidemiology)
  • Base Sequence
  • Globins (genetics)
  • Humans
  • Introns
  • Molecular Sequence Data
  • Mutation
  • Oligonucleotide Probes
  • Polymerase Chain Reaction
  • Thalassemia (epidemiology, genetics)

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