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1.
Genet Mol Res ; 14(4): 19094-101, 2015 Dec 29.
Artículo en Inglés | MEDLINE | ID: mdl-26782561

RESUMEN

Visceral leishmaniasis (VL) is one of the seven priority endemic diseases in the world. The clinical outcome of many infections is not only dependent on the pathogenic organism, but also on the genetic variability of the host susceptibility to infection. Mannose-binding lectin (MBL) is a protein that plays an important role in the innate immune system. The aim of this study was to compare the serum levels of MBL between healthy controls and carriers of VL. The VL cases were recruited randomly from the main hospitals and referral outpatient clinics for VL in São Luís, and from home visits. Determination of MBL protein levels was performed by enzyme-linked immunosorbent assay. Of the 161 patients with VL and the 161 healthy controls, 60.9 and 67.1% had high levels of MBL, respectively. There was no significant difference in MBL levels between cases and controls. Low socioeconomic status and living conditions are conducive to the occurrence of VL. Owing to the small number of existing studies, it is extremely important to conduct further studies on MBL levels and susceptibility to VL, especially in regions where the disease is endemic, such as Maranhão, Brazil.


Asunto(s)
Leishmaniasis Visceral/sangre , Lectina de Unión a Manosa/sangre , Adolescente , Adulto , Anciano , Brasil , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Adulto Joven
3.
Genet. mol. res. (Online) ; Genet. mol. res. (Online);2(4): 360-365, Dec. 2003.
Artículo en Inglés | LILACS | ID: lil-417594

RESUMEN

Dynamic mutation involves the expansion of a tandem arrayed DNA sequence that is polymorphic in the population. This mechanism is associated with neurological/neuromuscular disorders and the pathology depends on the extension of the repeated tract, with a specific threshold for each disease. We made a PCR-based characterization of allelic polymorphism of SCA1 and SCA2 loci in a sample of 200 pairs of chromosomes in a population in Rio de Janeiro and found 23 different alleles at the SCA1 locus, varying from 10 to 39 CAG repeats (mean 27.7 +/- 3.3, mode 28) and 10 different alleles ranging from 19 to 29 CAG (mean 22.1 +/- 1.0, mode 22) at the SCA2 locus. The level of heterozygosis was 53 (SCA1) and 8 (SCA2)


Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Adulto , Persona de Mediana Edad , Ataxias Espinocerebelosas/genética , Frecuencia de los Genes , Brasil , Análisis Mutacional de ADN , Predisposición Genética a la Enfermedad , Reacción en Cadena de la Polimerasa , Proteínas Nucleares/genética , Proteínas del Tejido Nervioso/genética , Proteínas/genética
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