RESUMO
Allele and genotype frequencies for six short tandem repeat (STR) loci were determined in a sample of 124 inhabitants from South Poland with commercial PCR-based typing kits. No deviations from Hardy-Weinberg expectations were found. The combined power of discrimination for the six loci was 0.9999982. There was no genotypic disequilibrium between the loci except for vWA and F13A01. The set of PCR loci was validated as useful for paternity testing and individual identification in the Polish population.
Assuntos
Frequência do Gene , Iodeto Peroxidase/genética , Sequências de Repetição em Tandem , Tirosina 3-Mono-Oxigenase/genética , Alelos , Feminino , Ligação Genética , Marcadores Genéticos , Humanos , Masculino , Polônia , Reação em Cadeia da Polimerase , Polimorfismo GenéticoRESUMO
Allele and genotype frequencies were determined in a sample of 102 inhabitants from South Poland with a commercial PCR based typing kit. No deviations from Hardy-Weinberg expectations were found. The combined power of discrimination for the five loci was 0.994. The systems did not show any allelic association between loci. The polymarker set was validated as useful for paternity testing and individual identification in a Polish population.
Assuntos
Alelos , Frequência do Gene , Marcadores Genéticos , Genótipo , Humanos , Polônia , Reação em Cadeia da Polimerase , Polimorfismo GenéticoRESUMO
A highly variable number of tandem repeats (VNTRs) in a human locus D1S80 can prove to be useful for forensic science purposes. As with other genetic polymorphisms, a database of a local population allelic frequencies is needed to ensure that no departure from genetic equilibrium exists. DNA from the locus D1S80 was amplified by polymerase chain reaction (PCR) and analyzed by horizontal PAGE followed by silver staining. Samples from 133 unrelated inhabitants of Southern Poland were examined. The amplified fragment length polymorphism (AMP-FLP) analysis of the D1S80 locus demonstrated 21 alleles and heterozygosity of 0.85%. Out of the 231 possible genotypes, 47 were observed. The results were compared to the published D1S80 population studies and a meta-analysis of the genotype frequencies was performed. The G statistics revealed a deviation from genetic equilibrium in the Spanish population. Replicated goodness of fit tests showed highly significant heterogeneity of genotype distribution between tested populations. Therefore, interpretation of the casework on the basis of D1S80 locus typing may be biased by interpopulation differences.
Assuntos
Alelos , Frequência do Gene , Repetições Minissatélites/genética , Adulto , DNA/análise , Feminino , Variação Genética , Genótipo , Humanos , Masculino , Paternidade , Polônia , Reação em Cadeia da Polimerase , Polimorfismo GenéticoRESUMO
A linkage analysis was performed between congenital adrenal hyperplasia and HLA-ABC and GLOI loci. On the basis of studies carried out in 23 (HLA) and 20 (GLOI) informative families, linkage between adrenal hyperplasia and locus B of HLA was confirmed, whereas that with GLOI was ruled out.
Assuntos
Hiperplasia Suprarrenal Congênita/genética , Ligação Genética , Antígenos de Histocompatibilidade Classe I/genética , Esteroide 21-Hidroxilase/genética , Adulto , Criança , Humanos , Escore LodRESUMO
In this work an attempt has been made to analyze the relationship between genetic markers and the occurrence of congenital cataract in children. The study included 32 families with 66 children in whom various clinical forms of congenital cataract had been diagnosed. In all examined patients, genetic markers such as ABO, MN, Rh systems, Gm1 factor, acid phosphatase (ACP1), esterase D and haptoglobin group were determined. The results were compared with the control population. It was found that the frequency of occurrence of heterozygote phenotype Hp 2-1 is higher in families with congenital cataract with simultaneous decrease of the frequency of occurrence of homozygote Hp 2-2. The obtained data were compared with those of other authors.
Assuntos
Catarata/congênito , Catarata/genética , Haptoglobinas/genética , Adulto , Criança , Feminino , Marcadores Genéticos , Humanos , MasculinoRESUMO
The prevalence of the markers of blood groups ABO, MN, Kell, Hp, Gm1 was determined in 723 persons belonging to three age groups: from 61 to 91 years, and was compared with a similar study in a population of adults aged 20 to 60 years. It was found that with respect to MN markers the proportion of NN homozygotes was significantly increased, mainly in females aged 71-80 years. In the haptoglobin system a considerable increase was noted in the prevalence of Hp 1-1 phenotype and the appearance of ahaptoglobinaemia. Increased prevalence of the Gm1 marker was observed only in females aged 71-80 years. On the other hand, no significant differences were noted in the frequency of the phenotypes of the ABO and Kell blood groups. These preliminary results confirm the stability of the serological polymorphism in the ABO and Kell blood groups, and in the remaining blood groups studied a natural selection may be supposed to exist. Characteristic changes in the distribution of the frequency of the determined genetic markers encourage the continuation of such studies.
Assuntos
Antígenos de Grupos Sanguíneos/genética , Proteínas Sanguíneas/genética , Fenótipo , Sistema ABO de Grupos Sanguíneos/genética , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Feminino , Marcadores Genéticos , Humanos , Sistema do Grupo Sanguíneo de Kell/genética , Sistema do Grupo Sanguíneo MNSs/genética , Masculino , Pessoa de Meia-IdadeRESUMO
The existence of the allele EsD degree in mother and her child, expressed phenotypically as EsD 2-0 and EsD 1-0 has been found. The enzymatic activity was reduced to about 50 per cent of the normal values of these phenotypes.
Assuntos
Carboxilesterase , Hidrolases de Éster Carboxílico/genética , Alelos , Feminino , Humanos , Fenótipo , PolôniaRESUMO
Experimental research demonstrated that ligation of the splenic artery impaired the process of early immune response to intravenously administered morphologically shaped antigen.
Assuntos
Anticorpos Anti-Idiotípicos/imunologia , Baço/imunologia , Artéria Esplênica/fisiologia , Testes de Aglutinação , Animais , CoelhosRESUMO
Phenotypes of the erythrocyte enzymes phosphoglucomutase (PGM1) were determined by horizontal starch gel electrophoresis in south part of Poland. The gene frequencies were calculated: PGM1(1) = 0.73526, PGM2(1) = 0.26349, PGM3(1) = 0.00031, PGM4(1) = 0.0001, PGM6(1) = 0.00016, PGM8(1) = 0.00063, PGM8(1) = 0.00005 and compared with populations of different regions of Poland.
Assuntos
Eritrócitos/enzimologia , Frequência do Gene/genética , Fosfoglucomutase/genética , Humanos , Fenótipo , PolôniaRESUMO
Phosphoglucomutase (PGM1) subtypes in South Polish population were examined by thin-layer polyacrylamide gel isoelectrofocusing (pH 5-7) using fresh hemolysates from 460 unrelated adults. The allele frequencies in Polish population are as follows: PGM1+1 = 0.6402, PGM1-1 = 0.1185, PGM2+1 = 0.1880, PGM2-1 = 0.0533.
Assuntos
Fosfoglucomutase/genética , Adolescente , Adulto , Alelos , Mapeamento Cromossômico , Eletroforese em Gel de Poliacrilamida , Medicina Legal , Humanos , Focalização Isoelétrica , Pessoa de Meia-Idade , Fenótipo , Fosfoglucomutase/classificação , PolôniaRESUMO
Phenotypes of members of one Polish family have revealed a "new" allele in the AcP system: called AcPk. Quantitative data of the phenotypes are given.