title: Heterogeneity of mRNA expression in Italian fucosidosis patients.
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.
authors.affiliation: Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genova, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Guazzi
authors.forename: P
authors.initials: P
authors.lastname: Persici
authors.forename: R
authors.initials: R
authors.lastname: Gatti
authors.forename: P
authors.initials: P
authors.lastname: Durand
authors.forename: J S
authors.initials: JS
authors.lastname: O'Brien
authors.forename: G
authors.initials: G
authors.lastname: Romeo
mesh_terms: D015152:Blotting, Northern; D015139:Blotting, Southern; D015342:DNA Probes; D005645:Fucosidosis / Q000235:genetics*; D007558:Italy; D009693:Nucleic Acid Hybridization; D012150:Polymorphism, Restriction Fragment Length; D012333:RNA, Messenger / Q000235:genetics; D012335:RNA, Ribosomal / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid; D005644:alpha-L-Fucosidase / Q000235:genetics*
chemical_list: D015342:DNA Probes; D012333:RNA, Messenger; D012335:RNA, Ribosomal; D005644:alpha-L-Fucosidase