The T-->A mutation at position -30 of the beta-globin gene found in a Karachai patient with beta-thalassemia intermedia.
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Adenine↗
Biomedical subjects
E M Rasulov
Publications and source records attributed to E M Rasulov.
[Prenatal diagnosis of beta-thalassemia].
Mass screening of married couples in the town of Baku has revealed a couple at risk of giving birth to a child with homozygotic beta-thalassemia. Prenatal diagnosis was carried out during week 23 of pregnancy by means of cordocentesis and biochemical analysis of globin chains, in vitro synthesized in fetal blood in the presence of labeled leucin. beta-thalassemia was detected in the fetus, similarly as in the child in this family. Abortion was induced on pregnancy week 25. Prenatal diagnosis is recommended in case of another pregnancy during the first trimester, involving analysis of the chorionic villi DNA.
Adult↗
[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.
Azerbaijan↗
[Express diagnosis of hereditary hemoglobinopathies in newborn infants].
An improved version of the method for electrofocusing of the globin chains extracted from the dried blood dots of newborn on the ultrathin polyacrylamide-ampholine gels at pH 5-8 is described. The method permits clinical diagnosing of hereditary hemoglobinopathies of the newborn.
Globins↗
[Separation and identification of human globin chains by the method of isoelectric focusing].
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Azerbaijan↗
[Incidence of erythrocytic enzymopathies (pyruvate kinase, glucosephosphate isomerase, glutathione peroxidase and glutathione reductase) in the population of Azerbaijan].
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Adolescent↗
[Immunogenetic markers in anterior endogenous uveitis].
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ABO Blood-Group System↗
[The prevalence and genetic heterogeneity of cleft lip and palate in the Lenkoran-Astara area of the Azerbaijan Republic].
The data on labial and/or palatine cleft distribution and genetic heterogeneity in Azerbaijan Republic Lenkoran-Astara zone are represented. The average frequency of the given pathology is 1:1626 of newborns. We have observed the autosome-dominant as well as autosome-recessive forms of given pathology, associated with beta-thalassemia and Gópd enzyme deficiency.
Adolescent↗
[Bite anomalies and inbreeding].
For the first time, the population investigation on frequency and structure of patho-occlusion in schoolchildren in complex with inbreeding has been carried out in 9 regions of Azerbaijan Republic. The frequency of these pathologies ranged between 22.59-39.94%, at the average frequency 28.03%. Correlation between frequencies of patho-occlusion and inbreeding coefficient in the studied regions was found.
Adolescent↗