Detection of conformational shifts and mutations in exon 8 from the atp7b gene in Cuban Wilson’s disease patients

wilson’s disease is a hereditary disorder of autosomal recessive inheritance that can cause irreversible, potentially lethal lesions to liver and brain. its molecular cause is the appearance of mutations in the atp7b gene. a total of 379 different disease-producing mutations are currently known, turning the molecular diagnosis of this disorder into a formidable challenge. the present study used single-strand conformational polymorphism for the detection of conformational changes in exon 8 of this gene. two shifts distinct from the normal allele, denominated b and c, were detected and mapped to mutations l708p and 2304dupc in heterozygosis. allelic frequencies for these mutations in 72 cuban wilson’s disease patients were 2 and 0.7%, respectively.