RESUMEN
DiGeorge syndrome is a disorder caused by a microdeletion on the long arm of chromosome 22. Approximately 1% of patients diagnosed with DiGeorge syndrome may have an absence of a functional thymus, which characterizes the complete form of the syndrome. These patients require urgent treatment to reconstitute T cell immunity. Thymus transplantation is a promising investigational procedure for reconstitution of thymic function in infants with congenital athymia. Here, we demonstrate a possible optimization of the preparation of thymus slices for transplantation through prior depletion of thymocytes and leukocyte cell lineages followed by cryopreservation with cryoprotective media (5% dextran FP 40, 5% Me2SO, and 5% FBS) while preserving tissue architecture. Thymus fragments were stored in liquid nitrogen at -196°C for 30 days or one year. The tissue architecture of the fragments was preserved, including the distinction between medullary thymic epithelial cells (TECs), cortical TECs, and Hassall bodies. Moreover, depleted thymus fragments cryopreserved for one year were recolonized by intrathymic injections of 3×106 thymocytes per mL, demonstrating the capability of these fragments to support T cell development. Thus, this technique opens up the possibility of freezing and storing large volumes of thymus tissue for immediate transplantation into patients with DiGeorge syndrome or atypical (Omenn-like) phenotype.
Asunto(s)
Síndrome de DiGeorge , Síndromes de Inmunodeficiencia , Humanos , Timocitos , Síndrome de DiGeorge/terapia , Timo , Células EpitelialesRESUMEN
DiGeorge syndrome is a disorder caused by a microdeletion on the long arm of chromosome 22. Approximately 1% of patients diagnosed with DiGeorge syndrome may have an absence of a functional thymus, which characterizes the complete form of the syndrome. These patients require urgent treatment to reconstitute T cell immunity. Thymus transplantation is a promising investigational procedure for reconstitution of thymic function in infants with congenital athymia. Here, we demonstrate a possible optimization of the preparation of thymus slices for transplantation through prior depletion of thymocytes and leukocyte cell lineages followed by cryopreservation with cryoprotective media (5% dextran FP 40, 5% Me2SO, and 5% FBS) while preserving tissue architecture. Thymus fragments were stored in liquid nitrogen at -196°C for 30 days or one year. The tissue architecture of the fragments was preserved, including the distinction between medullary thymic epithelial cells (TECs), cortical TECs, and Hassall bodies. Moreover, depleted thymus fragments cryopreserved for one year were recolonized by intrathymic injections of 3×106 thymocytes per mL, demonstrating the capability of these fragments to support T cell development. Thus, this technique opens up the possibility of freezing and storing large volumes of thymus tissue for immediate transplantation into patients with DiGeorge syndrome or atypical (Omenn-like) phenotype.
RESUMEN
Neuroblastoma (NB) is the most common extra cranial solid tumor of childhood and often lethal in childhood. Clinical and biologic characteristics that are independently prognostic of outcome in NB are currently used for risk stratification to optimally the therapy. It includes age at diagnosis, International Neuroblastoma Staging System tumor histopathology and MYCN amplification. However, even in patients with theoretically good prognosis, such as localized tumor and non-amplified MYCN, either disease progress or recurrence may occur. Potential genetic determinants of this unfavorable behavior are not yet fully clarified. The presence of elevated expression of AHCY, PKMYT1, and BLM has accompanied poor prognosis MYCN-amplified neuroblastoma patients. Considering the potential implication of these genes on the clinical management of NB, we hypothesize that the identification of genetic variations may have significant impact during development of the recurrent or progressive disease. Using targeted DNA sequencing, we analyzed the mutation profiles of the genes PKMYT1, AHCY, and BLM in tumor samples of five patients with MYCN amplified and 15 MYCN non-amplified NB. In our study, BLM germline variants were detected in two patients with MYCN-non-amplified neuroblastoma. Our data allow us to hypothesize that, regardless of MYCN status, these mutations partially abolish BLM protein activity by impairing its ATPase and helicase activities. BLM mutations are also clinically relevant because BLM plays an important role in DNA damage repair and the maintenance of genomic integrity. We also found a novel variant in our cohort, PKMYT1 mutation localized in the C-terminal domain with effect unknown on NB. We hypothesize that this variant may affect the catalytic activity of PKMYT1 in NB, specifically when CDK1 is complexed to cyclins. The prognostic value of this mutation must be further investigated. Another mutation identified was a nonsynonymous variant in AHCY. This variant may be related to the slow progression of the disease, even in more aggressive cases. It affects the maintenance of the catalytic capacity of AHCY, leading to the consequent functional effects observed in the NB patients studied. In conclusion, our hypothesis may provide that mutations in BLM, AHCY and PKMYT1 genes found in children with MYCN-amplified or MYCN-non amplified neuroblastomas, may be associated with the prognosis of the disease.
Asunto(s)
Adenosilhomocisteinasa/genética , Neoplasias Encefálicas/genética , Mutación de Línea Germinal , Proteínas de la Membrana/genética , Proteína Proto-Oncogénica N-Myc/genética , Neuroblastoma/genética , Proteínas Serina-Treonina Quinasas/genética , Proteínas Tirosina Quinasas/genética , RecQ Helicasas/genética , Niño , Estudios de Cohortes , Daño del ADN , Reparación del ADN , Progresión de la Enfermedad , Resistencia a Antineoplásicos , Regulación Neoplásica de la Expresión Génica , Variación Genética , Genoma Humano , Humanos , Modelos Teóricos , Recurrencia Local de Neoplasia , Pronóstico , Dominios Proteicos , Factores de Riesgo , Análisis de Secuencia de ADNRESUMEN
Considerable information has accumulated to show that DHA and EPA have unique roles that differ from other n-3 fatty acids and the n-6 fatty acids, with increasing understanding of the mechanisms through which these fatty acids reduce risk of disease. DHA and EPA regulate hepatic lipid and glucose metabolism, but are present in foods of animal origin, which are generally high in protein with variable triglycerides and low carbohydrate. Biological activity at intakes too low to provide significant amounts of energy is consistent with the definition of a vitamin for which needs are modified by life-stage, diet and genetic variables, and disease. Recent studies reveal that DHA may play a central role in co-coordinating complex networks that integrate hepatic glucose, fatty acid and amino acid metabolism for the purpose of efficient utilization of dietary protein, particularly during early development when the milk diet provides large amounts of energy from fat.
Asunto(s)
Ácidos Grasos Omega-3/metabolismo , Micronutrientes/metabolismo , Animales , Ácidos Docosahexaenoicos/administración & dosificación , Ácidos Docosahexaenoicos/deficiencia , Ácidos Docosahexaenoicos/metabolismo , Ácidos Docosahexaenoicos/uso terapéutico , Ácido Eicosapentaenoico/administración & dosificación , Ácido Eicosapentaenoico/metabolismo , Ácido Eicosapentaenoico/uso terapéutico , Ácidos Grasos Esenciales/administración & dosificación , Ácidos Grasos Esenciales/deficiencia , Ácidos Grasos Esenciales/metabolismo , Ácidos Grasos Esenciales/uso terapéutico , Ácidos Grasos Omega-3/administración & dosificación , Ácidos Grasos Omega-3/uso terapéutico , Humanos , Hígado/crecimiento & desarrollo , Hígado/metabolismo , Micronutrientes/administración & dosificación , Micronutrientes/deficiencia , Micronutrientes/normas , Estado NutricionalRESUMEN
The n-3 fatty acids, eicosapentaenoic acid (EPA, 20:5n-3) and docosahexaenoic acid (DHA, 22:6n-3) regulate hepatic lipid and glucose metabolism; however, EPA and DHA are naturally present in human diets in foods of animal origin, which are generally high in protein with variable triglycerides and uniformly low amounts of carbohydrate. We used dietary information for 611 individuals of 1.5-66 years to address whether EPA and DHA are associated with protein, but not fat intake. EPA, DHA and arachidonic acid (20:4n-6) intakes were positively associated with protein, but not fat intake, whereas linoleic acid (18:2n-6) and α-linolenic acid (18:3n-3) intakes were positively associated with fat, but not protein intake. Children 1-3 years of age have lower EPA and DHA intakes than children over 4 years or adults. Recommendations regarding EPA and DHA intake should focus on protein sources, rather than diet fat, and consider their potential roles in amino acid and protein metabolism.
Asunto(s)
Grasas de la Dieta , Ingestión de Energía/fisiología , Ácidos Grasos Omega-3 , Adolescente , Adulto , Anciano , Niño , Preescolar , Conducta Alimentaria , Femenino , Humanos , Masculino , Persona de Mediana Edad , Fenómenos Fisiológicos de la NutriciónRESUMEN
The n-3 and n-6 fatty acids are transferred across the placenta with consistently higher 22:6n-3 and lower 18:2n-6 in fetal than maternal plasma. This study sought to determine whether maternal and fetal cord blood red blood cell (RBC) phospholipid fatty acids show similar saturation with 22:6n-3, and also addressed the relationship between 18:2n-6 and Δ6 desaturase product/precursor ratios for 97 mothers and newborns. Despite higher fetal than maternal plasma phospholipid 22:6n-3, the maternal and fetal RBC phospholipid 22:6n-3 showed similar curvilinear relationships to the plasma phospholipid 22:6n-3. Risk of failure to achieve high RBC phospholipid 22:6n-3 increased sharply below a plasma phospholipid 22:6n-3 of 6.5g/100g fatty acids. Higher maternal and fetal 18:2n-6 was associated with lower RBC phospholipid 22:6n-3/22:5n-3, 22:5n-6/22:4n-6 and 18:3n-6/18:2n-6. These findings suggest low placental transfer of 18:2n-6 may be a specific mechanism to prevent inhibition of fetal Δ6 desaturase and facilitate fetal cellular phospholipid 22:6n-3 accretion.
Asunto(s)
Ácidos Docosahexaenoicos/sangre , Ácido Graso Desaturasas/metabolismo , Feto/metabolismo , Ácido Linoleico/sangre , Placenta/metabolismo , Adulto , Ácidos Docosahexaenoicos/metabolismo , Ácidos Grasos Omega-6/sangre , Ácidos Grasos Omega-6/metabolismo , Femenino , Desarrollo Fetal , Humanos , EmbarazoRESUMEN
Melanoma tumor growth and progression are highly dependent on adequate blood supply through angiogenesis. Since several genes involved in angiogenesis revealed potential binding sites for the transcription factor Sp1, we have examined the effects of local inoculation of Sp1 decoy oligodeoxynucleotides (ODNs) on the growth of transplanted murine melanoma tumors and the expression of VEGF and TNF-alpha within these tumors. Treatment with Sp1 decoy ODNs, but not their mutated form, led to a significant increase (P=0.041) of the tumor necrotic area, as evaluated morphometrically. Tumor necrosis was associated with a significant decrease of microvascular density (P=0.012) and relative vascular area (P=0.026), as determined by counting CD34-positive vascular structures within the tumor microenvironment of Sp1 decoy ODNs and control ODN-treated tumors. RT-PCR experiments showed a strong decrease in the levels of VEGF188 and VEGF164 isoforms and a moderate decrease of TNF-alpha in Sp1 decoy-treated tumors. Taken together, our results indicate that Sp1 decoy ODNs may inhibit angiogenesis by affecting the gene expression of key players in angiogenesis such as TNF-alpha and VEGF. These findings indicate that Sp1 decoy ODNs may be a potential new therapeutic tool in antiangiogenic therapy.
Asunto(s)
Terapia Genética/métodos , Melanoma/terapia , Neovascularización Patológica/terapia , Oligodesoxirribonucleótidos Antisentido/administración & dosificación , Neoplasias Cutáneas/terapia , Factor de Transcripción Sp1/genética , Animales , Regulación de la Expresión Génica , Melanoma/metabolismo , Melanoma/patología , Ratones , Ratones Endogámicos C57BL , Necrosis , Trasplante de Neoplasias , Neovascularización Patológica/metabolismo , Neovascularización Patológica/patología , Neoplasias Cutáneas/metabolismo , Neoplasias Cutáneas/patología , Factor de Necrosis Tumoral alfa/genética , Factor A de Crecimiento Endotelial Vascular/genéticaRESUMEN
We retrospectively analyzed the epidemiological features of 164 out-clinic patients with a first-onset stroke between 15 and 49 years old. Ischemic stroke occurred in 141 patients, hemorrhagic stroke in 16 patients, and venous thrombosis in 7 patients. Forty-eight percent of ischemic strokes were atherothrombotic, but no etiology was found in 32% of patients with ischemic stroke. Systemic arterial hypertension was the most frequent etiology in the hemorrhagic stroke group. The most frequent risk factors were systemic arterial hypertension, smoking, hypercholesterolemia, alcoholism and diabetes mellitus. Although stroke in young adults deserves some specific etiological investigation, we found that ordinary risk factors such as hypertension, tobacco use, hypercholesteremia and diabetes were prevalent in our population. It seems that prevention campaigns should be the target of our work.
Asunto(s)
Accidente Cerebrovascular/epidemiología , Adolescente , Adulto , Brasil/epidemiología , Femenino , Humanos , Embolia y Trombosis Intracraneal/complicaciones , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Retrospectivos , Factores de Riesgo , Accidente Cerebrovascular/etiologíaRESUMEN
The use of computed axial tomography (CT) in the investigation of neurologic disorders is attractive for its disponibility in the health services. However, the indications of the exam and the correlation with the clinical features has not been frequently studied. We study correlation between the requests of CT and the findings reported by the radiologist, in 367 exams performed from 07/1995 to 07/ 1996. The mean age was 31.7 +/- 22.9 years. The CT were requested in decrescent order of frequency by the Services of Neurology (36.2%), Emergency room (17.4%), Pediatric Neurology (16.9%) and Internal Medicine (5.9%). The CT was more indicated in cases of seizures (30%), headache (26.2%), motor impairment (20.2%) and reduction of conscience level (16.9%). The main hypothetic diagnosis were "to discard anatomic lesions" (9.0%), not specified stroke (8.2%) and neurocisticercosis (8.2%). The result of the CT was normal in 50.4% of the exams specially those requested in cases of headache (94.4%), seizures (71.4%) and "to discard anatomic lesions"(66.7%). The more frequently CT abnormalities were hydrocephalus (5.4%), ischemic stroke (5.4%) and neoplasm (3.5%) The greatest rates of correlation were among those to discard anatomic lesions (66,7%), hydrocephalus (50%), ischemic stroke (50%) and hematoma (50%). We concluded that CT is more helpful if more clinical data is provided in the request form, so aiding the radiologist in the final report.
Asunto(s)
Enfermedades del Sistema Nervioso/diagnóstico por imagen , Tomografía Computarizada por Rayos X/estadística & datos numéricos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Estudios Transversales , Femenino , Cefalea/diagnóstico por imagen , Humanos , Lactante , Masculino , Persona de Mediana Edad , Trastornos del Movimiento/diagnóstico por imagen , Servicio de Radiología en Hospital , Convulsiones/diagnóstico por imagenRESUMEN
We report three patients who collectively have very representative clinical forms of neuro-Behçet and different neurological findings. The first case, male, 49 years old, presents symptoms similar to multiple sclerosis. The second case, male 15 years old, presents with parenchymatous compromise and an association with antiphospholipid antibody. And the third case, female 25 years old, presents an acute meningitis. Neuro-Behçet must always be included as a differential diagnosis of neurological disorders that have any difficulties in establishing a definite diagnosis.
Asunto(s)
Síndrome de Behçet/diagnóstico , Encefalopatías/diagnóstico , Adulto , Anticuerpos Anticitoplasma de Neutrófilos/sangre , Síndrome de Behçet/sangre , Síndrome de Behçet/líquido cefalorraquídeo , Electroforesis de las Proteínas Sanguíneas , Encefalopatías/complicaciones , Femenino , Humanos , Inmunoglobulina A/sangre , Inmunoglobulina G/sangre , Inmunoglobulina M/sangre , Masculino , Persona de Mediana Edad , Paraparesia/etiología , Paresia/etiología , Albúmina Sérica/análisisRESUMEN
Neurofibromatosis type 1 (NF1) can virtually affect any organ, presenting most frequently with "cafe au lait" spots and neurofibromas. Vasculopathy is a known complication of NF1, but cerebrovascular disease is rare. We report the case of a 51-year-old man admitted to the hospital with a history of stroke four months before admission. On physical examination, he presented various "cafe au lait" spots and cutaneous neurofibromas. Neurologic examination demonstrated right-sided facial paralysis, right-sided hemiplegia, and aphasia. Computed tomography scan of head showed hypodense areas in the basal ganglia and centrum semiovale. Radiographs of cranium and cervical spine showed basilar impression. Angiography revealed complete occlusion of both vertebral and left internal carotid arteries, and partial stenosis of the right internal carotid artery. A large network of collateral vessels was present (moyamoya syndrome). It is an uncommon case of occlusive cerebrovascular disease associated with NF1, since most cases described in the literature are in young people, and tend to spare the posterior cerebral circulation. Basilar impression associated with this case may be considered a pure coincidence, but rare cases of basilar impression and NF1 have been described.
Asunto(s)
Trastornos Cerebrovasculares/etiología , Neurofibromatosis 1/complicaciones , Platibasia/etiología , Trastornos Cerebrovasculares/diagnóstico , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Moyamoya , Neurofibromatosis 1/diagnóstico , Platibasia/diagnóstico , SíndromeRESUMEN
We present the case of a patient that after chronic use of anticonvulsant drugs without proven epilepsy, developed Dupuytren's and Ledderhose's diseases. We discuss the most frequent predisposing factors, and their relationship with chronic use of anticonvulsants, particularly phenobarbitone.
Asunto(s)
Anticonvulsivantes/efectos adversos , Contractura de Dupuytren/inducido químicamente , Enfermedades del Pie/inducido químicamente , Adulto , Diazepam/efectos adversos , Contractura de Dupuytren/cirugía , Epilepsia/tratamiento farmacológico , Enfermedades del Pie/cirugía , Humanos , Masculino , Fenobarbital/efectos adversos , Fenitoína/efectos adversos , Factores de TiempoRESUMEN
The purpose was to describe the main features of headache incidence in a hospital community, its frequency and the most requested medical investigation. Due to the stressful work environment, hospital is considered to hold a high-risk population. Interviews and questionnaires were utilized. Of a 1006 files, which were randomly filled out, 987 could be analyzed. Of all, 38.5% were from headache sufferers. By using a table of pain symptoms taken from the International Headache Society classification as a pattern, headaches were assigned as migraine, tension-type and other. The mean age was 31.18 and the frequency in females was higher than in males, at any type. Family occurrence in first-degree relatives was 76.8%. Frontal location, medium intensity and pulsation were the most described features. Stress was the most frequently mentioned trigger factor. A physician was consulted only by 41.3%. Cranium X-ray was the most frequently requested exam.
Asunto(s)
Cefalea/epidemiología , Personal de Salud , Enfermedades Profesionales/epidemiología , Adulto , Femenino , Cefalea/clasificación , Cefalea/etiología , Hospitales Comunitarios , Humanos , Incidencia , Masculino , Enfermedades Profesionales/clasificación , Enfermedades Profesionales/etiología , Estrés Fisiológico/complicaciones , Encuestas y CuestionariosRESUMEN
Previous studies have examined the arrangement of regulatory elements along the apolipoprotein B (apoB) promoter region (-3067 to +940) and a promoter fragment extending from nucleotides -150 to +124 has been demonstrated to be essential for transcriptional activation of the apoB gene in hepatic and intestinal cells. It has also been shown that transcriptional activation of apoB requires a synergistic interaction between hepatic nuclear factor-4 (HNF-4) and CCAAT/enhancer-binding protein a (C/EBPa) transcription factors. Here, we have examined the hypothesis that HNF-4 factor binding to DNA may induce a DNA helix bend, thus facilitating the communication with a C/EBPa factor located one helix turn from this HNF-4 factor in the apoB promoter. A gel electrophoretic mobility shift assay using wild type double-stranded oligonucleotides or modified wild type duplex oligonucleotides with 10 nucleotides inserted between HNF-4 and C/EBPa factor motifs showed similar retarded complexes, indicating that HNF-4 and C/EBPa factors interact independently of the distance between binding sites. However, when only one base, a thymidine, was inserted at the -71 position of the apoB promoter, the complex shift was completely abolished. In conclusion, these results regarding the study of the mechanisms involving the interaction between HNF-4 and C/EBPa factors in the apoB promoter suggest that the perfect 5'-CCCTTTGGA-3' motif is needed in order to facilitate the interaction between the two factors.
Asunto(s)
Apolipoproteínas B , Regiones Promotoras Genéticas , Factores de Transcripción , Secuencia de Bases , Oligonucleótidos , Factor de Transcripción AP-1RESUMEN
Previous studies have examined the arrangement of regulatory elements along the apolipoprotein B (apoB) promoter region (-3067 to +940) and a promoter fragment extending from nucleotides -150 to +124 has been demonstrated to be essential for transcriptional activation of the apoB gene in hepatic and intestinal cells. It has also been shown that transcriptional activation of apoB requires a synergistic interaction between hepatic nuclear factor-4 (HNF-4) and CCAAT/enhancer-binding protein alpha (C/EBP alpha) transcription factors. Here, we have examined the hypothesis that HNF-4 factor binding to DNA may induce a DNA helix bend, thus facilitating the communication with a C/EBP alpha factor located one helix turn from this HNF-4 factor in the apoB promoter. A gel electrophoretic mobility shift assay using wild type double-stranded oligonucleotides or modified wild type duplex oligonucleotides with 10 nucleotides inserted between HNF-4 and C/EBP alpha factor motifs showed similar retarded complexes, indicating that HNF-4 and C/EBP alpha factors interact independently of the distance between binding sites. However, when only one base, a thymidine, was inserted at the -71 position of the apoB promoter, the complex shift was completely abolished. In conclusion, these results regarding the study of the mechanisms involving the interaction between HNF-4 and C/EBP alpha factors in the apoB promoter suggest that the perfect 5'-CCCTTTGGA-3' motif is needed in order to facilitate the interaction between the two factors.
Asunto(s)
Apolipoproteínas B , Regiones Promotoras Genéticas , Factores de Transcripción , Secuencia de Bases , Oligonucleótidos , Factor de Transcripción AP-1RESUMEN
Previous studies have shown that the regulatory element AIC of apolipoprotein A-I is recognized by both positive and negative regulators which bind to over-lapping domains. One of these activities has been designated AIC1. Competition experiments showed that AIC1 could be competed out by oligonucleotides containing the binding site of the transcription factor NFY. In the present study, DNA binding gel electrophoresis and competition assays showed that NFY and AIC1 recognized the same binding site on element AIC. This site contains a CCACT motif and differs by one residue from the consensus CCAAT binding motif of NFY. Cotransfection of HepG2 cells with both the -177 to -148 apoA-I CAT constructs and plasmid expressing NFY alpha and NFY beta, transactivated the apoA-I promoter by 1.8 fold, indicating that NFY is a positive activator of the apoA-I gene.
Asunto(s)
Apolipoproteína A-I/genética , Proteínas de Unión al ADN/metabolismo , Regiones Promotoras Genéticas , Secuencias Reguladoras de Ácidos Nucleicos , Factores de Transcripción/metabolismo , Activación Transcripcional , Animales , Sitios de Unión , Proteínas Potenciadoras de Unión a CCAAT , Células COS , Humanos , Masculino , Ratas , Ratas Sprague-Dawley , Transfección , Células Tumorales CultivadasRESUMEN
Congenital generalized lipodystrophy is a rare inherited disease. One of its features is a disturbance in lipid metabolism characterized by hypercholesterolemia and hypertriglyceridemia. A brother and a sister with congenital generalized lipodystrophy, an 8-year old male and a 12-year old female were studied. The mother and a 6-year old brother were healthy. The genetic analysis of Sstl RFLP of the apo AI-CIII-AIV gene cluster showed the presence of the rare Sstl allele (S2) in the patients but not in the healthy mother and brother. As this uncommon allele has been reported to be related to high plasma triglyceride levels, this association could be relevant in explaining in part the hypertriglyceridemia observed in these patients.
Asunto(s)
Alelos , Apolipoproteínas/genética , Lipodistrofia/congénito , Lipodistrofia/genética , Familia de Multigenes/genética , Triglicéridos/sangre , Niño , Femenino , Humanos , Masculino , Polimorfismo GenéticoRESUMEN
We report the molecular characterization of a middle repetitive DNA sequence, named C6, isolated from the Trypanosoma cruzi genome. C6 appears to be a composite repeated element since 3 subregions may be defined within it on the basis of sequence similarities with other T. cruzi genomic sequences. Sequences homologous to C6 are interspersed in the genome and can be mapped out on most chromosomal bands of different T. cruzi. strains. The copy number of the C6 element is about 1000 per haploid genome. Given the species specificity and different genomic distribution of C6 homologous sequences among the T. cruzi strains the C6 element could be a useful probe for diagnosis and typing of parasites. C6 is a polymorphic marker with potential as a tool for physical mapping of the T. cruzi genome.
Asunto(s)
Genoma de Protozoos , Secuencias Repetitivas de Ácidos Nucleicos , Trypanosoma cruzi/genética , Animales , Secuencia de Bases , Southern Blotting , Enfermedad de Chagas/diagnóstico , Enfermedad de Chagas/parasitología , ADN Protozoario/genética , Electroforesis en Gel de Campo Pulsado , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa , Polimorfismo Genético/genética , Secuencias Repetitivas de Ácidos Nucleicos/genética , Análisis de Secuencia de ADN , Especificidad de la Especie , Trypanosoma cruzi/aislamiento & purificaciónRESUMEN
Possible associations between coronary heart disease (CHD) and restriction fragment length polymorphisms (RFLPs) in the apo AI-CII-AIV cluster and the apo B gene were investigated in a Brazilian population consisting of 46 patients with CHD and 24 individuals without evidence of CHD. A preliminary genetic analysis of SstI RFLP in the apo AI-CII-AIV cluster showed a significantly higher frequency of the rare SstI allele (S2) in CHD patients as compared with controls. No significant differences were found in the frequencies of PstI RFLP in the apo AI-CII-AIV cluster or XbaI and EcoRI RFLPs in the apo B gene between CHD patients and controls. Moreover, no association was seen between the RFLPs studied and myocardial infarction or plasma cholesterol or triglyceride levels.
Asunto(s)
Apolipoproteína A-I/genética , Apolipoproteínas B/genética , Polimorfismo Genético/genética , Adulto , Anciano , Apolipoproteína A-I/análogos & derivados , Brasil , Enfermedad Coronaria/genética , Femenino , Humanos , MasculinoRESUMEN
Possible associations between coronary heart disease (CHD) and restriction fragment length polymorphisms (RFLPs) in the apo AI-CIII-AIV cluster and the apo B gene were investigated in a Brazilian population consisting of 46 patients with CHD and 24 individuals without evidence of CHD. A preliminary genetic analysis of SstI RFLP in the apo AI-CIII-AIV cluster showed a significantly higher frequency of the rare SstI allele (S2) in CHD patients as compared with controls. No significant differences were found in the frequencies of PstI RFLP in the apo AI-CIII-AIV cluster or XbaI and EcoRI RFLPs in the apo B gene between CHD patients and controls. Moreover, no association was seen between the RFLPs studied and myocardial infarction or plasma cholesterol or triglyceride levels.