Yulia Clark, Teresa Collazo, Caridad Ruenes, Elsa García, Zoe Robaina, Fragoso T, Rodríguez G, Piloto Y, Espinosa G, Maragoto C, Vera H, García I, Reyes L, Castañeda C

Language: English
References: 17
Page: 87-90
PDF size: 240.97 Kb.

ABSTRACT

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.

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