RESUMEN
Population data were generated for the STR systems HUMFIBRA and HUMD21S11 for a Hungarian Caucasian population sample residing in Baranya County, Hungary (127 unrelated individuals). The loci were coamplified using a fluorescence based PCR method and were typed automatically. For both loci 12 different alleles could be found including some variants. No deviations from Hardy-Weinberg expectations were observed. Both loci proved to be highly discriminating and valuable polymorphisms for forensic analyses.
Asunto(s)
Alelos , Marcadores Genéticos , Genética de Población , Secuencias Repetitivas de Ácidos Nucleicos , Población Blanca/genética , Medicina Legal , Humanos , Hungría , Reacción en Cadena de la Polimerasa/métodos , Polimorfismo GenéticoRESUMEN
A population study of Hungarian Romanies was carried out for the STR loci HumVWFA31, HumTH01, HumTPOX, and HumCSF1PO. After multiplex PCR amplification semi-automatic DNA profiling was performed using an ALF DNA sequencer. At the loci investigated there was little and no evidence for departures from Hardy-Weinberg expectations and linkage equilibrium, respectively. The allele sizing accuracy of the ALF DNA sequencer was increased to a high level (99.97% on average) by applying external and internal markers. Allele frequency distributions of the STR loci, with one exception, were significantly different between the Romany and other Hungarian population databases. On the other hand, however, only small differences in frequencies of individual phenotypes were found.
Asunto(s)
ADN/genética , Marcadores Genéticos/genética , Genética de Población , Reacción en Cadena de la Polimerasa , Romaní/genética , Adulto , Alelos , Femenino , Frecuencia de los Genes/genética , Homocigoto , Humanos , Hungría , MasculinoRESUMEN
The time-course of the reaction of H1 and total histone with glucose, acetaldehyde or both has been studied using the NBT reduction test and fluorescence. With both methods, purified H1 histone gave higher absorbance with acetaldehyde than with a 1:1 combination of glucose and acetaldehyde. For total histone, the opposite was found; a 1:1 combination of the above two aldehydes had the higher absorbance. As an explanation, the possibility of different reactivity of the amino groups with glucose and acetaldehyde is proposed. A possible simultaneous interaction between glucose, acetaldehyde and serum protein, mainly albumin, may alter the results of the diagnostic protein glycation methods, e.g. of the fructosamine test, and, therefore, also the monitoring of diabetes.
Asunto(s)
Acetaldehído/farmacocinética , Alcoholismo/diagnóstico , Glucemia/metabolismo , Diabetes Mellitus/diagnóstico , Glicoproteínas , Hexosaminas , Histonas/metabolismo , Alcoholismo/sangre , Animales , Proteínas Sanguíneas/metabolismo , Bovinos , Diabetes Mellitus/sangre , Fructosamina , Productos Finales de Glicación Avanzada , Humanos , Técnicas In Vitro , Valor Predictivo de las Pruebas , Albúmina Sérica/metabolismo , Proteínas Séricas Glicadas , Albúmina Sérica GlicadaRESUMEN
The serum antihistone antibody (AHA) positivity of patients with various autoimmune diseases was compared with their positive reaction for antinuclear factor, rheumatoid factor, lupus erythematosus factor, cryoglobulin, immunocomplex, C-reactive protein, total protein, gamma globulin, IgG and IgM. In non-drug-induced SLE cases the predictive value of the AHA test was not higher than that of the other tests. It was striking that in 42% of patients with non-autoimmune disease aged over 70 the AHA test was positive. Elevated IgM values were recorded in about 70% of positive AHA samples.
Asunto(s)
Autoanticuerpos/sangre , Enfermedades Autoinmunes/inmunología , Histonas/inmunología , Adulto , Factores de Edad , Anciano , Enfermedades Autoinmunes/sangre , Proteínas Sanguíneas/análisis , Niño , Humanos , Inmunoglobulina A/sangre , Inmunoglobulina A/clasificación , Inmunoglobulina G/sangre , Inmunoglobulina G/clasificación , Inmunoglobulina M/sangre , Inmunoglobulina M/clasificación , Lupus Eritematoso Sistémico/sangre , Lupus Eritematoso Sistémico/inmunología , Esclerosis Múltiple/sangre , Esclerosis Múltiple/inmunología , Enfermedades de la Piel/sangre , Enfermedades de la Piel/inmunologíaRESUMEN
C4A and C4B are closely related homologous complement proteins encoded in the class III region of major histocompatibility complex (MHC). The regulation of their expression is under genetic and hormonal control. In this study we investigated the synovial fluid plasma ratio of C4A and C4B of rheumatoid (RA) and osteoarthritis (OA) patients, and a predominance of the C4B gene expression by the synovial macrophages of RA patients was demonstrated. To clarify the tissue specificity of the expression of C4A and C4B genes, human monocytoid cell line U937 and hepatoma-derived HepG2 cells were studied. The gene expression of C4A and C4B were markedly different in these cells since a relative predominance of C4B mRNA in U937 cells and excess of that of C4A in HepG2 cells were detected. Recombinant interferon-gamma (IFN-gamma) up-regulated the expression of C4A gene in both cells, but had apparently no effect on the C4B gene. Our results demonstrate dissimilar expression patterns for the two human C4 genes, suggesting different tissue specific regulation of human C4A and C4B.