Heterogeneity of mRNA expression in Italian fucosidosis patients

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Abstract
Genomic DNA and mRNA from six unrelated Italian patients affected with fucosidosis were analyzed using two probes (AF3 and AF11B) of partial length cDNA coding for the lysosomal enzyme alpha-l-fucosidase. DNA from patient 2, digested with EcoRI, showed a variant pattern of hybridization caused by the loss of an EcoRI site. The same patient showed a markedly decreased amount of mRNA on Northern blot hybridization. Among the remaining patients, who showed no variation at the DNA level, two apparently lacked mRNA for alpha-l-fucosidase whereas the other three showed a transcript similar in size and amount to that observed in controls. These data confirm the genetic heterogeneity of the molecular defects causing fucosidosis in Italy.