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.
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Authors | S Guazzi, P Persici, R Gatti, P Durand, J S O'Brien, G Romeo |
Journal | Human genetics
(Hum Genet)
Vol. 82
Issue 1
Pg. 63-6
(Apr 1989)
ISSN: 0340-6717 [Print] Germany |
PMID | 2565868
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- DNA Probes
- RNA, Messenger
- RNA, Ribosomal
- alpha-L-Fucosidase
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Topics |
- Blotting, Northern
- Blotting, Southern
- DNA Probes
- Fucosidosis
(genetics)
- Italy
- Nucleic Acid Hybridization
- Polymorphism, Restriction Fragment Length
- RNA, Messenger
(genetics)
- RNA, Ribosomal
(genetics)
- Sequence Homology, Nucleic Acid
- alpha-L-Fucosidase
(genetics)
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