ABSTRACT
No disponible
Subject(s)
Humans , Male , Adult , alpha 1-Antitrypsin Deficiency/complications , alpha 1-Antitrypsin Deficiency/diagnosis , alpha 1-Antitrypsin Deficiency/genetics , Mannose-Binding Lectin/analysis , Mannose-Binding Lectin/classification , Mannose-Binding Lectin/deficiency , alpha 1-Antitrypsin Deficiency/etiology , Complement Pathway, Mannose-Binding LectinABSTRACT
The present study investigated the prevalence of the polymorphisms in the exon 1 of the MBL2 gene in patients with tuberculosis at a hospital in northern Brazil, which is a regional reference for the treatment of the disease. The study group was composed of 167 patients with tuberculosis, 34 of which had the extra-pulmonary form of the disease, while the other 133 had the pulmonary type. The control group consists of 159 healthy individuals. Samples of DNA extracted from leucocytes were submitted to Polymerase Chain Reaction for the amplification of a 120-bp segment of exon 1 of the MBL2 gene. The distribution of allele and genotype frequencies varied little among the different groups, and it was not possible to establish any clear association between the variants of the MBL2 gene and the susceptibility to or clinical profile of tuberculosis infections in the population analyzed.
Subject(s)
Mannose-Binding Lectin/genetics , Mycobacterium tuberculosis/growth & development , Tuberculosis, Pulmonary/genetics , Tuberculosis/genetics , Alleles , Brazil/epidemiology , Case-Control Studies , Exons , Female , Gene Frequency , Genotype , Humans , Male , Mannose-Binding Lectin/classification , Protein Isoforms/classification , Protein Isoforms/genetics , Tuberculosis/diagnosis , Tuberculosis/epidemiology , Tuberculosis/microbiology , Tuberculosis, Pulmonary/diagnosis , Tuberculosis, Pulmonary/epidemiology , Tuberculosis, Pulmonary/microbiologyABSTRACT
Mannose-binding lectin (MBL) mediates activation of the complement system via the lectin pathway. Two forms of MBL, MBL-A and MBL-C, were characterized in rodents, rabbits, bovine and rhesus monkeys, whereas only one form was identified in humans, chimpanzees and chickens. The two forms are encoded by two distinct genes named MBL1 and MBL2, which have been identified in many species including the pig. In this report, we studied the two porcine genes MBL1 and MBL2. The porcine MBL genes had higher identities to bovine rather than primate and rodent sequences. Both genes were assigned to chromosome 14 by radiation hybrid panel and linkage mapping. Both MBL genes were highly expressed in liver. MBL1 was also found to be expressed in the lung, testis and brain, whereas low expression of MBL2 was detected in the testis and kidney. New single nucleotide polymorphisms of porcine MBL2 gene were found and genotyped in an experimental F2 pig population, together with a previously reported SNP of MBL1. MBL1 genotypes differed in C3c serum concentration, i.e. in vivo complement activity, at P < 0.1. Correspondingly, linkage analysis revealed a quantitative trait locus for C3c serum level close to the position of the MBL genes. The study thus promotes the porcine MBL genes as functional and positional candidate gene for complement activity.
