SciELO - Scientific Electronic Library Online

 
vol.30 número4Compuestos inorgánicos como adyuvantes de vacunasRegeneración de plantas de plátano 'Barraganate' a partir de embriones somáticos mediante el uso de un sistema de inmersión temporal índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Servicios Personalizados

Revista

Articulo

Indicadores

  • No hay articulos citadosCitado por SciELO

Links relacionados

  • No hay articulos similaresSimilares en SciELO

Compartir


Biotecnología Aplicada

versión On-line ISSN 1027-2852

Resumen

GONZALEZ, Laura et al. Characterization of the IVS17bTA microsatellite marker and six CTFR gene mutations in 21 Cuban families with cystic fibrosis. Biotecnol Apl [online]. 2013, vol.30, n.4, pp.262-266. ISSN 1027-2852.

Cystic fibrosis is an autosomal recessive disease. Its incidence in Cuba is 1 in 5000 live births. The molecular cause underlying this disease is related to mutations in the regulatory gene encoding the cystic fibrosis transmembrane regulator (CFTR). In this study, the techniques for the study of IVS17bTA microsatellite marker were standardized, and the most frequent mutations in the CFTR gene were also detected for 21 Cuban families. Polymerase chain reaction, agarose and polyacrylamide (plus silver staining) gel electrophoresis techniques were used for both, identification of mutations and microsatellite standardization. Among the 22 Cuban patients, seven were found homozygous, four compound heterozygous and 11 with a single mutation so, 33 chromosomes were molecularly characterized for the 75 %. Twelve allelic variants were found for the IVS17bTA microsatellite; alleles 31 and 7 the most frequent ones. Alleles 31 and 46 were associated to the F508del and R334W mutations, respectively. Among the 21 families, 18 were completely informative for the IVS17bTA microsatellite marker, accounting for 85.7 %. This study helped to complete the diagnosis in those patients in which the responsible mutations in one or both chromosomes had not yet been identified. Besides, we were also able to identify mutations associated with different alleles of the marker without gene sequencing, also helping to decrease the cost of screening.

Palabras clave : IVS17bTA microsatellite marker; cystic fibrosis; polymerase chain reaction.

        · resumen en Español     · texto en Inglés     · Inglés ( pdf )

 

Creative Commons License Todo el contenido de esta revista, excepto dónde está identificado, está bajo una Licencia Creative Commons