RESUMEN
Like other countries in the Americas, during its colonization Uruguay was the recipient of immigrants from several ethnic groups from Europe, as well as of enslaved Africans. After its independence in 1830, Basques were the first group of Europeans to arrive in the country. In this paper, we aim to contribute to the understanding of the process of integration of these migratory waves into the Uruguayan society. For that purpose, individuals of Basque origin from the city of Trinidad, Uruguay, were chosen to participate in this study. Particularly, we wanted to determine if Basque descendants in Uruguay remained relatively isolated or if they mixed with other ethnic groups. Mitochondrial DNA (mtDNA) of 60 self-identified Basque descendants, taken from a larger sample of subjects with Basque ancestors, was analyzed. The origin of mtDNA haplogroups was 77.8% European, 20.4% Amerindian, and 1.8% African, showing similar frequencies to other Uruguayan regions. Very few sequences showed a clear Basque origin, although other sources such as the Canary Islands are likely. Moreover, genetic distances clearly show that Basque descendants are genetically closer to other Uruguayan groups than to European populations, including Basques. It is possible to conclude that Basques and their descendants in the region of Trinidad did not remain isolated and that their marriage behavior was similar to that of other Uruguayan populations. However, to have a more accurate picture of the way Basques intermarried with other populations in Uruguay, new analyses are needed that take into account paternal lineages as well as biparental genetic markers.
Asunto(s)
Colonialismo/historia , ADN Mitocondrial/genética , Emigración e Inmigración/historia , Etnicidad/genética , Genética de Población/historia , Haplotipos/genética , Emigración e Inmigración/estadística & datos numéricos , Etnicidad/historia , Etnicidad/estadística & datos numéricos , Femenino , Historia del Siglo XIX , Historia del Siglo XX , Historia del Siglo XXI , Humanos , España , UruguayRESUMEN
BACKGROUND: Information about consanguinity in Uruguay is scarce and limited to the end of the 20th century. AIM: To determine the frequency and characteristics of consanguineous marriages, as well as chronological trends, in two Uruguayan cities over almost two centuries. SUBJECTS AND METHODS: We analysed 28,393 Roman Catholic Church marriage records and Diocesan consanguinity dispensations belonging to the cities of Melo (Northeast), and Montevideo (South), for the period 1800--1994. RESULTS: 633 (2.23%) marriages were consanguineous. Among them, first cousin marriages were the most common (58.8% of all consanguineous marriages, including double consanguineous), especially those where the bride and groom were related through their maternal side. During the first decades of the 19th century both regions showed low levels of consanguinity. Consanguinity reached its maximum during the mid-1800s and decreased significantly throughout the 20th century. The overall mean coefficients of inbreeding were moderate in both cases, being greater in the Northeast (alpha=0.00165) than in the South (alpha = 0.00089). CONCLUSIONS: The low level of consanguinity as well as the structure of consanguineous marriages (distribution by degrees) is similar to that found in other southern South American countries. Temporal trends are similar to those found in industrialized regions in Europe, with maximum inbreeding levels during the middle-late 19th century; however, the clear predominance of first cousin unions, differs from most of the data for European countries. Small differences between the two cities can be related to diverse facts, such as socio-economic conditions, ethnic origin, immigration, and sampling.
Asunto(s)
Consanguinidad , Matrimonio/historia , Femenino , Historia del Siglo XIX , Historia del Siglo XX , Humanos , Masculino , Matrimonio/tendencias , Sistema de Registros , UruguayRESUMEN
We studied HLA DQB1 allele frequencies and the relative risk (RR) of various genotypes in 72 type 1 diabetic patients and 40 control individuals in Uruguay. This is a tri-racial (Caucasian, Black and Indo-American) mixed population. The products of the polymerase chain reaction amplifications were hybridized with oligonucleotides by allele-specific oligonucleotide reverse or dot blot methods. Significant differences between these two groups were observed only for allele DQB1*0302 (35, RR = 7.34, P<0.001). The frequency of the alleles carrying a non-aspartic acid residue at position 57 was significantly higher in the diabetic patients (85 vs 53, P<0.001). In contrast, the frequency of Asp alleles was negatively associated with type 1 diabetes (RR = 0.20, P<0.001). The genotype DQB1*0302/DQB1*0201 (33, RR = 5.41, P<0.05) was positively associated with this disease. The genotype frequencies associated with type 1 diabetes in our population were significantly different from what is known for Caucasian and Black populations as well as compared with another admixed population, from Chile
Asunto(s)
Humanos , Masculino , Femenino , Niño , Antígenos HLA-DQ/genética , Diabetes Mellitus Tipo 1 , Predisposición Genética a la Enfermedad , Alelos , Estudios de Casos y Controles , Diabetes Mellitus Tipo 1 , Frecuencia de los Genes , UruguayRESUMEN
PURPOSE: To evaluate the catalytic activity of the red cell enzyme, glutathione reductase (GR) in pregnant women with Hb AS and with Hb AA, and in a group of non-pregnant women with Hb AA, as well as the relationship of GR deficiency with Hb S. PATIENTS AND METHODS: The catalytic activity was determined in presence and absence of FAD by means of a modified Long and Carson technique. 59 pregnant women with AS and 33 with AA phenotypes were studied. RESULTS: Differences were found in the enzyme's catalytic activity with and without FAD, both in pregnant women with Hb AS (mean values 37.17 nka/g y Hb in whites and 42.84 nkat/g HS in afro people) and in those with Hb AA, and also in non-pregnant women with Hb AA. A high frequency of GR deficiency was found in all groups due to an insufficient riboflavin supply in diet. CONCLUSION: A correlation between GR deficiency and Hb S could not be demonstrated. The coefficient of activity of red cell GR shows a tendency to increase in pregnancy due to certain riboflavin deficit of diet.
Asunto(s)
Eritrocitos/enzimología , Glutatión Reductasa/sangre , Complicaciones Hematológicas del Embarazo/sangre , Embarazo/sangre , Rasgo Drepanocítico/sangre , Adulto , Población Negra/genética , Catálisis , Cuba/epidemiología , Dieta , Femenino , Flavina-Adenina Dinucleótido/sangre , Hemoglobina A/análisis , Hemoglobina Falciforme/análisis , Humanos , Fenotipo , Complicaciones Hematológicas del Embarazo/epidemiología , Deficiencia de Riboflavina/sangre , Deficiencia de Riboflavina/complicaciones , Deficiencia de Riboflavina/epidemiología , Rasgo Drepanocítico/complicaciones , Rasgo Drepanocítico/epidemiología , Población Blanca/genéticaRESUMEN
A total number of 1,149 specimens of cord-blood were subjected to cellulose acetate gel electrophoresis in order to estimate the incidence of haemoglobinopathies in newborn infants (NBI). It was found that 4.37% of black NBI and 0.54% of white NBI were AS carriers. Those samples with HbS or HbC were verified by means of agar-citrate electrophoresis at pH 6.2. Haemoglobin Bart was commonest in black (3.1%) than in white (0.4%) NBI. A slow haemoglobin variant was found with an alpha-chain mutation. The concentration of gamma G was estimated by separation of gamma G and gamma A chains with polyacrylamide gel electrophoresis, and it ranged between 52% and 94%, which could be attributed to the fact that the shift from HbF to HbA is not simultaneous in all the red-cell population.
Asunto(s)
Electroforesis en Gel de Poliacrilamida , Sangre Fetal/química , Hemoglobina Fetal/análisis , Globinas/análisis , Población Negra , Hemoglobina Fetal/química , Humanos , Recién Nacido , Población BlancaRESUMEN
Ciprofibrate, a hypolipidaemic drug with carcinogenic and peroxisome-proliferation effects in rat liver, was found to increase the phosphorylation of epidermal-growth-factor receptor in 32P-labeled isolated rat hepatocytes. This effect was suppressed by protein-kinase-C inhibitors, and was accompanied by an almost complete inhibition of the receptor autophosphorylation normally induced by its ligand. However, in vitro experiments showed that protein-kinase-C phosphorylation of purified epidermal-growth-factor receptor was activated by ciprofibroyl-CoA, the acyl-CoA derivative of the drug, but not by the unmodified drug. Neither compound affected the ligand induction of epidermal-growth-factor-receptor autophosphorylation in isolated liver membranes. These results suggest that metabolically produced ciprofibroyl-CoA in liver cells would activate protein-kinase-C and produce changes in epidermal-growth-factor-receptor function.
Asunto(s)
Ácido Clofíbrico/análogos & derivados , Receptores ErbB/metabolismo , Hipolipemiantes/farmacología , Hígado/efectos de los fármacos , Microcuerpos/efectos de los fármacos , Acilcoenzima A/metabolismo , Animales , Células Cultivadas , Ácido Clofíbrico/metabolismo , Ácido Clofíbrico/farmacología , Activación Enzimática , Ácidos Fíbricos , Hígado/metabolismo , Fosforilación , Proteína Quinasa C/metabolismo , RatasRESUMEN
The formation of acyl-CoA esters of the hypolipidaemic peroxisome proliferators clofibric acid, ciprofibrate and nafenopin was studied in isolated rat hepatocytes. The concentration of ciprofibroyl-CoA in the liver of ciprofibrate-treated rats was in the range of 10-30 microM. The three drugs formed acyl-CoA esters when incubated with isolated hepatocytes. Their formation was saturable and reached a plateau after 30 min incubation. Maximal intracellular concentrations of ciprofibroyl-CoA and clofibroyl-CoA (100 microM and 55 microM respectively) were attained at 0.5 mM of the free drugs in the incubation medium, whereas for nafenopin-CoA, the maximal intracellular concentration (9 microM) was reached at 1 mM-nafenopin. At low concentrations of the hypolipidaemic compounds in the incubation medium a significant proportion of the total intracellular drug was present as its acyl-CoA ester (25-35% for ciprofibrate). When isolated hepatocytes were incubated with a ciprofibrate concentration comparable with that observed in the blood of drug-treated rats (0.1 mM), ciprofibroyl-CoA attained an intracellular concentration similar to that previously observed in the liver of treated rats. The formation of ciprofibroyl-CoA by isolated rat hepatocytes was stimulated by the addition of carnitine and partially inhibited by the addition of palmitate. Further, it was shown that human liver homogenates synthesized ciprofibroyl-CoA at a rate similar to that observed for rat liver homogenates. Solubilized human platelets also formed ciprofibroyl-CoA, although at a rate two orders of magnitude lower than that of liver. The results support the view that acyl-CoA esters of hypolipidaemic peroxisome proliferators may be the pharmacologically active species of the drugs.
Asunto(s)
Plaquetas/metabolismo , Ácido Clofíbrico/análogos & derivados , Ácido Clofíbrico/farmacocinética , Lípidos/sangre , Hígado/metabolismo , Nafenopina/farmacocinética , Acilcoenzima A/metabolismo , Animales , Biotransformación , Carnitina/farmacología , Células Cultivadas , Ácido Clofíbrico/metabolismo , Ácido Clofíbrico/farmacología , Ácidos Fíbricos , Humanos , Cinética , Hígado/citología , Nafenopina/análogos & derivados , Nafenopina/metabolismo , Octoxinol , Ácido Palmítico , Ácidos Palmíticos/farmacología , Polietilenglicoles/farmacología , Ratas , Ratas EndogámicasRESUMEN
To gain insight into the mechanism by which long-chain acyl-CoA thioesters potentiate diacylglycerol-activated protein kinase C, the cofactor dependence of this activating effect was studied with purified rat brain enzyme and histone H1 as substrate. Using two different assay systems, palmitoyl-CoA was found to decrease greatly the amount of phosphatidylserine required to activate the kinase. No relative changes were observed in the dependence of the enzyme for other cofactors (diacylglycerol, ATP, and Ca2+) in the presence of palmitoyl-CoA. The potentiating effect of palmitoyl-CoA and the decrease in phosphatidylserine requirement of the kinase was also demonstrated using the 47-kDa protein of human platelets as substrate and platelet protein kinase C as source of enzyme. The acyl-CoA thioester of the carcinogenic peroxisome-proliferator ciprofibrate was also found to decrease the phosphatidylserine requirement of protein kinase C. The data suggest that acyl-CoAs may play a role in the regulation of protein kinase C activity.