Análisis molecular del exón 2 del gen atp7b en pacientes cubanos con la enfermedad de Wilson

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.