ABSTRACT
In order to develop a rational and early detection of combined forms of hemoglobin and enzymopathies, 1500 samples of neonatal cord blood were tested for alpha- and beta-thalassemia, of abnormal hemoglobins S and C, of methemoglobinemia and for hereditary persistence of fetal hemoglobin as well as 428 samples were examined for glucose-6-phosphate dehydrogenase (EC 1.1.1.49) and glutathione reductase (EC 1.6.4.2) deficiencies. For this purpose, isoelectrofocusing in Multiphor-2117 polyacrylamide-ampholine plates (LKB, Sweden) at pN 3.5-9.5 and pH 5.5-8.5 was carried out with subsequent laser densitometry of gels (Densitometer 2202, LKB). The data obtained were analyzed simultaneously in biochemical, hematological and genealogical studies. Hereditary impairments detected were evidenced by genealogical analysis.
Subject(s)
Hemoglobinopathies/diagnosis , Infant, Newborn, Diseases/diagnosis , Metabolism, Inborn Errors/diagnosis , Female , Glucosephosphate Dehydrogenase Deficiency/complications , Glucosephosphate Dehydrogenase Deficiency/diagnosis , Glutathione Reductase/deficiency , Hemoglobinopathies/complications , Humans , Infant, Newborn , Isoelectric Focusing , Male , Metabolism, Inborn Errors/complicationsABSTRACT
Early diagnosis of the deficiency of glucose 6-phosphate dehydrogenase was made in examining 428 samples of funic blood from 230 boys and 198 girls. The normal level of the enzyme activity was established in red blood cells of the healthy newborn with regard to the national and sexual differences. The hereditary character of the deficiency of glucose 6-phosphate dehydrogenase was supported in 37 neonates by analyzing the pedigrees. The enzyme deficiency was associated with different forms of hemoglobinopathies: alpha- and beta-thalassemia, structurally abnormal hemoglobin S and methemoglobinemia. The considerable prevalence of the deficiency of glucose 6-phosphate dehydrogenase was revealed in Azerbaijan for the first time. The phenotypic frequency amounted to 8.64% whereas the gene one to 0.0623.
Subject(s)
Glucosephosphate Dehydrogenase Deficiency/genetics , Age Factors , Azerbaijan/epidemiology , Female , Glucosephosphate Dehydrogenase Deficiency/epidemiology , Humans , Infant, Newborn , Male , Pedigree , Phenotype , Sex FactorsABSTRACT
The developed modification may be used in clinical practice as a diagnostic test and in mass screenings for phosphoglycerate kinase deficiency: more than a hundred tests may be made in a day. If blood samples have to be sent by mail, their quality is unchanged for up to 7 days.
Subject(s)
Erythrocytes/enzymology , Mass Screening/methods , Phosphoglycerate Kinase/deficiency , Child , Humans , Phosphoglycerate Kinase/blood , Staining and LabelingABSTRACT
Polymorphism of serum cholinesterase (SCE, acylcholinacylhydrolase, EC 3.1.1.8) for the E1 locus was studied in the groups of the patients affected with schizophrenia, peptic ulcer, hereditary erythrocytopathies, tuberculosis, thyreotoxicosis, essential hypertension and rheumatic disease. Increased frequencies of I phenotypes (E1uE1a genotype) were found among patients with peptic ulcer (12.3%), hereditary erythrocytopathies (23.2%), and UF phenotypes (E1uE1f genotype) were observed among patients with schizophrenia (2.8%) and tuberculosis (5.4%). The increased frequencies of E1a and E1f alleles in these groups of patients were, as compared to the control group, statistically significant. The value of relative risk for peptic ulcer was 3.39 in individuals of the E1uE1a genotype, those being 3.62 for schizophrenia and 6.92 for tuberculosis in individuals of the E1uE1f genotype. The nature of the other associations is discussed.
Subject(s)
Alleles , Cholinesterases/genetics , Disease Susceptibility , Genetic Markers , Mutation , Anemia/genetics , Cholinesterases/blood , Humans , Peptic Ulcer/genetics , Schizophrenia/genetics , Tuberculosis/geneticsABSTRACT
Through examination of G6PD deficiency among 939 pupils of Shekii district of Azerbaijan 52 hemi-, 10 homo- and 58 heterozygous carriers of defect were found. Relatives of probands--inhabitants of 3 settlements in the Shekii district-- were examined on G6PD deficiency too. Average hemizygote frequency is 11.11%, heterozygotes frequency is 12.9%. The cases of disaccordance between phenotype and genotype in female carriers of Gd- are analysed using pedigree data.
Subject(s)
Glucosephosphate Dehydrogenase Deficiency/genetics , Glucosephosphate Dehydrogenase/genetics , Alleles , Azerbaijan , Child , Female , Genetic Carrier Screening , Glucosephosphate Dehydrogenase Deficiency/epidemiology , Homozygote , Humans , Male , Mass Screening , Pedigree , Polymorphism, GeneticABSTRACT
In order to clear out the role of genetico-automatic processes in Gd- distribution the investigation of population structure of three settlements in the Shekii district was carried out. Sex and age ratios and the average number of living children on one marriage (> 5.7) bear evidence of expanded reproduction in this population. The high frequency of endogamous marriages (approximately 80%) and 14 cases of consaguinous marriage for 183 analysed pedigree were revealed. The allele frequencies in 6 polymorphic systems were determined: ABO, Rh, Hp, PGM, Gc and AP; in the first three there were found out the statistically significant differences in alleles' frequency between subpopulations, but not in the last three systems. The differentiation type of allele frequency in all 6 loci was similar in subpopulations. The inbreeding coefficient fst determined upon the differentiation of the gene frequency at three loci is 0.00583.
