Identificación del polimorfismo k832r en pacientes cubanos con diagnóstico clínico de la enfermedad de Wilson

Yulia Clark Feoktistova, Caridad Ruenes, Elsa F.García Bacallao, Teresa Collazo Mesa, Zoe Robaina Jiménez, Carlos Castañeda, Hilda Roblejo

Producción científica: Contribución a una revistaArtículorevisión exhaustiva

3 Citas (Scopus)

Resumen

Introduction: Wilson's disease is characterized by accumulation of copper in liver, brain and cornea. It is an autosomal recessive inherited disorder of copper metabolism. The molecular causes are mutations in the atp7b gene. It has been reported in the literature several polymorphisms in the atp7b gene. Objective: this research aims to identify the polymorphism K832R in 100 Cubans patients with clinical diagnosis of Wilson's disease. Materials and Methods: in this study we used the technique of screening: single stranded conformational polymorphism for the determination of conformational shifts in exon 10. We used sequencing technique for identifying the K832R polymorphism. Results: they identified three different conformational shifts denominated: a, b and c. The shifts b and c corresponded to polymorphism K832R in heterozygous and homozygous state respectively. The frequency of this polymorphism K832R is 35% in 100 Cubans patients. Conclusions: the polymorphism K832R was identified first in Cuba and it will make possible molecular studies by indirect methods.

Título traducido de la contribuciónIdentification of the k832r polymorphism in patients with clinical diagnosis of Wilson's disease
Idioma originalEspañol
Páginas (desde-hasta)197-202
Número de páginas6
PublicaciónRevista Habanera de Ciencias Medicas
Volumen12
N.º2
EstadoPublicada - 2013
Publicado de forma externa

Palabras clave

  • Atp7b gene
  • K832R polymorphism
  • SSCP
  • Sequencing
  • Wilson disease

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