[Testing of G----A mutation in position 110 of a minor intron of beta-globin genes in patients with thalassemia in Azerbaijan].
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.
Fedorov
A N
AN
Rasulov
E M
EM
Oretskaia
T S
TS
Lebedeva
I V
IV
Ivanovskaia
M G
MG
Shabarova
Z A
ZA
Limborskaia
S A
SA
D001382:Azerbaijan / Q000453:epidemiology; D001483:Base Sequence; D005914:Globins / Q000235:genetics*; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D013789:Thalassemia / Q000453:epidemiology / Q000235:genetics*
D015345:Oligonucleotide Probes; D005914:Globins
Testirovanie mutatsii G----A v 110-m polozhenii malogo introna beta-globinovogo gena u bol'nykh talassemieĭ iz Azerbaĭdzhana.