SciELO - Scientific Electronic Library Online

 
vol.16 número2Condiciones histórico-sociales que modelaron el pensamiento pedagógico de Fidel Ilizástigui DupuyModificaciones cefalométricas esqueletales en pacientes Clase II División 1 tratados con Aparatología Bimler índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Servicios Personalizados

Articulo

Indicadores

  • No hay articulos citadosCitado por SciELO

Links relacionados

  • No hay articulos similaresSimilares en SciELO

Compartir


Revista Habanera de Ciencias Médicas

versión On-line ISSN 1729-519X

Resumen

CLARK FEOKTISTOVA, Yulia et al. p. K832R and p. T991T polymorphisms’ analysis in Cuban patients with clinical diagnosis of Wilson's disease. Rev haban cienc méd [online]. 2017, vol.16, n.2, pp. 168-176. ISSN 1729-519X.

Introduction: Wilson's disease is characterized by accumulation of copper in the liver, brain and cornea. It is transmitted with an autosomal recessive inherited disorder. The molecular causes are mutations in the ATP7B gene. It has been reported in the literature more than 139polymorphisms of the ATP7B gene. Objective: Identify the conformational changes in exons 10 and 13 and detect the polymorphisms p.K832R and p.T991T in the ATP7B gene in Cuban patients with clinical diagnosis of Wilson's disease. Material and Methods: Was performed a descriptive study including 27 patients with Wilson’s disease ranging in the time from 2012 to 2013. Were applied the polymerase chain reaction to amplify the fragment of interest and the Conformation Polymorphism Single-Chain procedures in the exon 10 and 13 of the ATP7B gene. The p. K832R and p. T991T polymorphisms were detected by sequencing this fragment. Results: Three different conformational changes were identified: (a, b and c) in exon 10 and (a and b) in exon 13 of the ATP7B gene. The allelic frequency of polymorphisms p. K832R and p. T991T in 27 Cuban patients with clinical diagnosis of Wilson's disease is 35.2% and 5.6%, respectively. Conclusions: It is the first time in Cuba that a combination of the polymorphisms p. K832R and p. T991T were identified which will allow to make possible molecular studies by indirect methods.

Palabras clave : Wilson’s disease; p. K832R polymorphism; p. T991T polymorphism; SSCP; sequencing; ATP7B gene.

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

 

Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License