Revista Habanera de Ciencias Médicas
versión ISSN 1729-519X
CLARK FEOKTISTOVA, Yulia et al. Molecular analysis in the exon 2 of atp7b gene in cubans patients with wilson disease. Rev haban cienc méd [online]. 2011, vol.10, n.3, pp. 281-286. ISSN 1729-519X.
Wilson disease is an autosomal recessive inherited disorder of copper metabolism. It is clinically characterised by hepatic and neurological manifestations related to the accumulation of copper in the liver and brain. Molecular analysis reveals more than 380 distinct mutations. The molecular diagnosis is complex. In this investigation we use single- strand conformation polymorphism for determine conformationals shift. We identified two different conformationals shifts in the exon 2 of atp7b gene in cubans patients, denominated: a and b. The shift b correspond with the mutation N41S. The frequency of this mutation is 0.77% in 130 cubans patients.
Palabras llave : Wilson disease; mutation N41S; SSCP; atp7b gene.