RESUMEN
The prevalence of adult-type hypolactasia varies ethnically and geographically among populations. A C/T(-13910) single nucleotide polymorphism (SNP), upstream of the lactase gene, is known to be associated with lactase non-persistence. The aim of this study was to determine the prevalence of lactase-persistent and non-persistent genotypes in the Hungarian population, the age at onset and the applicability of the lactose H2 breath test in comparison with genetic screening. The prevalence of the C/C(-13910) genotype among adults was 37%. Hypolactasia starts to appear at around 5 years of age. Over the age of 12 years, almost all of those with a C/C(-13910) genotype have lactase non-persistence. The C/C(-13910) genotype was closely associated with a positive lactose H2 breath test in symptomatic children, whereas the lactase-persistent genotypes correlated better with a negative H2 test in a control group. In conclusion, supplementary non-invasive breath and genotyping tests furnish a perfect clinical diagnosis.
Asunto(s)
Lactasa/deficiencia , Lactasa/genética , Intolerancia a la Lactosa/diagnóstico , Intolerancia a la Lactosa/epidemiología , Adolescente , Adulto , Biopsia , Pruebas Respiratorias , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/patología , Niño , Preescolar , Diagnóstico Diferencial , Femenino , Enfermedades Gastrointestinales , Genotipo , Humanos , Hungría/epidemiología , Hidrógeno/análisis , Intestino Delgado/cirugía , Intolerancia a la Lactosa/genética , Masculino , Fenotipo , Polimorfismo de Nucleótido Simple , Valor Predictivo de las Pruebas , Prevalencia , Adulto JovenRESUMEN
In this study, we examine the frequency of a 900 kb inversion at 17q21.3 in the Gypsy and Caucasian populations of Hungary, which may reflect the Asian origin of Gypsy populations. Of the two haplotypes (H1 and H2), H2 is thought to be exclusively of Caucasian origin, and its occurrence in other racial groups is likely to reflect admixture. In our sample, the H1 haplotype was significantly more frequent in the Gypsy population (89.8 vs 75.5%, P<0.001) and was in Hardy-Weinberg disequilibrium (P=0.017). The 17q21.3 region includes the gene of microtubule-associated protein tau, and this result might imply higher sensitivity to H1 haplotype-related multifactorial tauopathies among Gypsies.
Asunto(s)
Pueblo Asiatico/genética , Variación Genética , Genoma Humano , Romaní/genética , Población Blanca/genética , Proteínas tau/genética , Cromosomas Humanos Par 17/genética , Haplotipos , HumanosRESUMEN
The Hungarian population belongs linguistically to the Finno-Ugric branch of the Uralic family. The Tat C allele is an interesting marker in the Finno-Ugric context, distributed in all the Finno-Ugric-speaking populations, except for Hungarians. This question arises whether the ancestral Hungarians, who settled in the Carpathian Basin, harbored this polymorphism or not. 100 men from modern Hungary, 97 Szeklers (a Hungarian-speaking population from Transylvania), and 4 archaeologically Hungarian bone samples from the 10(th) century were studied for this polymorphism. Among the modern individuals, only one Szekler carries the Tat C allele, whereas out of the four skeletal remains, two possess the allele. The latter finding, even allowing for the low sample number, appears to indicate a Siberian lineage of the invading Hungarians, which later has largely disappeared. The two modern Hungarian-speaking populations, based on 22 Y-chromosomal binary markers, share similar components described for other Europeans, except for the presence of the haplogroup P*(xM173) in Szekler samples, which may reflect a Central Asian connection, and high frequency of haplogroup J in both Szeklers and Hungarians. MDS analysis based on haplogroup frequency values, confirms that modern Hungarian and Szekler populations are genetically closely related, and similar to populations from Central Europe and the Balkans.
Asunto(s)
Cromosomas Humanos Y/genética , Genética de Población , Población Blanca/genética , Etnicidad/clasificación , Etnicidad/genética , Europa (Continente) , Variación Genética , Humanos , Hungría , Lenguaje , Masculino , Filogenia , Mutación Puntual , Polimorfismo Genético , Análisis de Secuencia de ADN , Población Blanca/clasificaciónRESUMEN
The recent identification of tribbles as regulators of signal processing systems and physiological processes, including development, together with their potential involvement in diabetes and cancer, has generated considerable interest in these proteins. Tribbles have been reported to regulate activation of a number of intracellular signalling pathways with roles extending from mitosis and cell activation to apoptosis and modulation of gene expression. The current review summarises our current understanding of interactions between tribbles and various other proteins. Since our understanding on the molecular basis of tribbles function is far from complete, we also describe a bioinformatic analysis of various segments of tribbles proteins, which has revealed a number of highly conserved peptide motifs with potentially important functional roles.
Asunto(s)
Proteínas Reguladoras de la Apoptosis/metabolismo , Proteínas de Ciclo Celular/metabolismo , Proteínas de Drosophila/metabolismo , Proteínas Nucleares/metabolismo , Fosfotransferasas/genética , Proteínas Quinasas/metabolismo , Proteínas Serina-Treonina Quinasas/metabolismo , Proteínas de Xenopus/metabolismo , Secuencias de Aminoácidos , Secuencia de Aminoácidos , Animales , Proteínas Reguladoras de la Apoptosis/genética , Proteínas de Ciclo Celular/genética , Secuencia Conservada , Proteínas de Drosophila/genética , Evolución Molecular , Humanos , Modelos Biológicos , Datos de Secuencia Molecular , Proteínas Nucleares/genética , Proteínas Serina-Treonina Quinasas/genética , Estructura Terciaria de Proteína , Homología de Secuencia de Aminoácido , Transducción de SeñalRESUMEN
Identification of rate-limiting steps or components of intracellular second messenger systems holds promise to effectively interfere with these pathways under pathological conditions. The emerging literature on a recently identified family of signalling regulator proteins, called tribbles gives interesting clues for how these proteins seem to link several 'independent' signal processing systems together. Via their unique way of action, tribbles co-ordinate the activation and suppression of the various interacting signalling pathways and therefore appear to be key in determining cell fate while responding to environmental challenges. This review summarises our current understanding of tribbles function and also provides an evolutionary perspective on the various tribbles genes.
Asunto(s)
Proteínas de Ciclo Celular/fisiología , Evolución Molecular , Péptidos y Proteínas de Señalización Intracelular/fisiología , Morfogénesis/fisiología , Proteínas Serina-Treonina Quinasas/fisiología , Proteínas Represoras/fisiología , Transducción de Señal/fisiología , Secuencia de Aminoácidos , Animales , Enfermedades Autoinmunes/fisiopatología , Evolución Biológica , Proteínas Quinasas Dependientes de Calcio-Calmodulina , Proteínas de Ciclo Celular/química , Proteínas de Ciclo Celular/genética , Linaje de la Célula , Secuencia de Consenso , Proteínas de Drosophila/química , Proteínas de Drosophila/deficiencia , Proteínas de Drosophila/genética , Proteínas de Drosophila/fisiología , Drosophila melanogaster/embriología , Drosophila melanogaster/genética , Drosophila melanogaster/fisiología , Desarrollo Embrionario/genética , Desarrollo Embrionario/fisiología , Etiquetas de Secuencia Expresada , Regulación de la Expresión Génica/genética , Regulación de la Expresión Génica/fisiología , Humanos , Péptidos y Proteínas de Señalización Intracelular/química , Péptidos y Proteínas de Señalización Intracelular/genética , Invertebrados/genética , Invertebrados/fisiología , Datos de Secuencia Molecular , Morfogénesis/genética , Neoplasias/fisiopatología , Proteínas Quinasas/fisiología , Proteínas Serina-Treonina Quinasas/química , Proteínas Serina-Treonina Quinasas/deficiencia , Proteínas Serina-Treonina Quinasas/genética , Estructura Terciaria de Proteína , Proteínas Tirosina Fosfatasas/fisiología , Proteínas Represoras/química , Proteínas Represoras/genética , Alineación de Secuencia , Homología de Secuencia de Aminoácido , Transducción de Señal/genética , Especificidad de la Especie , Inanición/fisiopatología , Vertebrados/genética , Vertebrados/fisiología , Xenopus/fisiología , Proteínas de Xenopus/fisiologíaRESUMEN
Mouse teratocarcinoma cell lines allow the analysis of very early commitment and differentiation events, that are likely to be similar to those operating in the early mouse embryo. We have previously characterised the excision repair capabilities of these cells after ultraviolet light irradiation and found that differentiation is accompanied by reduction of excision repair. In the present study we examine the operation of an other DNA repair pathway participating in the removal of alkylation damage. O6-alkylguanine-DNA alkyltransferase (ATase) activity was determined in undifferentiated and differentiated mouse P19 teratocarcinoma cell line. To obtain more information about regulation of ATase we transfected P19 cells with constructs harbouring a human ATase cDNA driven by a housekeeping promoter.
