ABSTRACT
Examination of 933 schoolchildren in the Kyurdamir district of Azerbaijan for the carriage of abnormal variants of serum cholinesterase (EC 3.1.1.8.) revealed high biochemical polymorphism of the enzyme. This was conditioned by high frequencies of mutant alleles of the E1-E1a and E1s loci responsible for atypical and "silent" enzyme variants. The cases of confusions of phenotypes of different heterozygotes are being analyzed using the material on pedigrees. Two types of the normal alleles (E1u)--E1u1 and E1u2--were shown to be present in the population analyzed.
Subject(s)
Cholinesterases/genetics , Polymorphism, Genetic , Adolescent , Adult , Alleles , Azerbaijan , Cholinesterases/blood , Gene Frequency , Genetic Markers , Heterozygote , Humans , Mutation , Pedigree , PhenotypeABSTRACT
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/geneticsSubject(s)
Cholinesterases/blood , Erythrocytes , Hematologic Diseases/enzymology , Adolescent , Alleles , Child , Child, Preschool , Cholinesterases/genetics , Genotype , Glucosephosphate Dehydrogenase Deficiency/enzymology , Glucosephosphate Dehydrogenase Deficiency/genetics , Hematologic Diseases/genetics , Heterozygote , Homozygote , Humans , Infant , Phenotype , Thalassemia/enzymology , Thalassemia/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.
