ABSTRACT
The most frequent mutations associated with rifampin and isoniazid resistance in Mycobacterium are the substitutions at codons 531 and 315 in the rpoB and katG genes, respectively. Hence, the aim of this study was to characterize these mutations in Mycobacterium isolates from patients suspected to be infected with drug-resistant (DR) pulmonary tuberculosis (TB) in Veracruz, Mexico. Drug susceptibility testing of 25 clinical isolates revealed that five were susceptible while 20 (80 percent) were DR (15 percent of the annual prevalence for Veracruz). Of the DR isolates, 15 (75 percent) were resistant to rifampin, 17 (85 percent) to isoniazid and 15 (75 percent) were resistant to both drugs (MDR). Sequencing analysis performed in the isolates showed that 14 (93 percent) had mutations in the rpoB gene; seven of these (47 percent) exhibited a mutation at 531 (S[L). Ten (58 percent) of the 20 resistant isolates showed mutations in katG; nine (52 percent) of these 10 exhibited a mutation at 315 (S[T). In conclusion, the DR profile of the isolates suggests a significant number of different DR-TB strains with a low frequency of mutation at codons 531 and 315 in rpoB and katG, respectively. This result leads us to consider different regions of the same genes, as well as other genes for further analysis, which is important if a genetic-based diagnosis of DR-TB is to be developed for this region.
Subject(s)
Humans , Bacterial Proteins/genetics , Catalase/genetics , Mycobacterium/genetics , Tuberculosis, Multidrug-Resistant/genetics , Tuberculosis, Pulmonary/microbiology , Antitubercular Agents/pharmacology , Mexico , Mutation/genetics , Mycobacterium/drug effects , Mycobacterium/isolation & purificationABSTRACT
Se presenta el caso de un paciente masculino con retraso psicomotor y características fenotípicas del síndrome dup (3q). El estudio citogenético reveló un rearreglo cromosómico de novo consistente en una inserción invertida de la región duplicada que resultó en un cariotipo 46,XY, der (3) (pter - q13.3::q27 - q26.1::q13.3 - qter). Esta aberración cromosómica no habria sido descrita previamente en este síndrome