SciELO - Scientific Electronic Library Online

 
vol.38 número3Magnitud de la pesquisa activa en diagnóstico de tuberculosis implementada en grupos vulnerables. Matanzas 2009-2013Micoplasmas urogenitales como causa de infertilidad femenina. Hospital Ginecobstétrico Provincial de Matanzas. 2014-2015 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 Médica Electrónica

versión On-line ISSN 1684-1824

Resumen

CERVERA GARCIA, Ismael A; GARCIA HEREDIA, Marileivis  y  COLLAZO MESA, Teresa. Frequency of the mutations C282Y and H63D of the HFE gene in patients diagnosed with deficiency of Alpha-1-Antitrypsin. Rev.Med.Electrón. [online]. 2016, vol.38, n.3, pp. 361-369. ISSN 1684-1824.

Introduction: Due to the high frequency of C282Y and H63D mutations in the HFE gene, promoter type 1 hemochromatosis, and mutations S or Z causing the deficiency of alpha-1-antitrypsin (def-A1AT), studies have shown their coexistence in several patients. As a result, many scientists consider mutations in the HFE gene as a possible contributor to the development of hepatic events in patients with A1AT-def. Aim: To determine the frequency of C268Y and H63D mutations in patients with liver disease and presumptive diagnosis of A1AT-def. Materials and methods: We conducted a descriptive study that involved 65 patients with liver disease who were referred to the Molecular Biology Laboratory of the National Center of Medical Genetics for the molecular diagnosis of S and Z mutations of the gene for alpha-1 antitrypsin. We used the polymerase chain reaction method with polymorphisms in the sizes of the restriction fragments (PCR-RFLP). Results: The frequency of C282Y and H63D mutations of the HFE gene in patients with presumptive diagnosis of deficiency of alpha-1 antitrypsin was 5.3% and 17% respectively. Conclusions: this study showed that the frequency of these two mutations in Cuban population is high. We also observed that both of them, even in heterozygous state, seem to play a main role in the development of different diseases.

Palabras clave : hemochromatosis type 1; deficiency of alpha-1-antitrypsin; molecular diagnosis; mutation C282Y; H63D mutation.

        · 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