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.
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Authors | A N Fedorov, E M Rasulov, T S Oretskaia, I V Lebedeva, M G Ivanovskaia, Z A Shabarova, S A Limborskaia |
Journal | Molekuliarnaia genetika, mikrobiologiia i virusologiia
(Mol Gen Mikrobiol Virusol)
Issue 1
Pg. 18-22
(Jan 1990)
ISSN: 0208-0613 [Print] Russia (Federation) |
Vernacular Title | Testirovanie mutatsii G----A v 110-m polozhenii malogo introna beta-globinovogo gena u bol'nykh talassemieĭ iz Azerbaĭdzhana. |
PMID | 2139713
(Publication Type: English Abstract, Journal Article)
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Chemical References |
- Oligonucleotide Probes
- Globins
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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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