Abstract

CLARK, Yulia et al. Detection of conformational shifts and mutations in exon 8 from the atp7b gene in Cuban Wilson’s disease patients. Biotecnol Apl [online]. 2011, vol.28, n.2, pp.87-90. ISSN 1027-2852.

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.

Keywords : Wilson’s disease; mutation L708P; SSCP.

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