ArticleJournal of molecular neuroscience : MN1989
Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame.
Article in Journal of molecular neuroscience : MN, 1989. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 22 citations in OpenAlex.
- Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.Genes · 2020Review
- Fucosidosis: genetic and biochemical analysis of eight cases.Journal of medical genetics · 1997Article
- Isolation of the canine alpha-L-fucosidase cDNA and definition of the fucosidosis mutation in English Springer Spaniels.Mammalian genome : official journal of the International Mammalian Genome Society · 1996Article
- The molecular defect underlying canine fucosidosis.Journal of medical genetics · 1996Article
- Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase.Journal of medical genetics · 1994Article
- A 5' splice site mutation in fucosidosis.Journal of medical genetics · 1993Article
- Abnormal expression of alpha-L-fucosidase in lymphoid cell lines of fucosidosis patients.Biochemical genetics · 1989Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Recently, a subset of fucosidosis patients was identified in which the single EcoRI site in the open reading frame of the human cDNA encoding alpha-L-fucosidase was obliterated. We have employed the polymerase chain reaction technique to amplify alpha-L-fucosidase DNA from the five patients known to carry the EcoRI abnormality as well as four patients and two additional fucosidosis patients who do not carry the EcoRI abnormality. Sequence analysis of the amplified DNA has determined that the EcoRI site was destroyed by a C-T transition in the last position of the EcoRI site. This single base change results in the generation of a stop codon 120 base pairs upstream of the normal stop codon. In addition, we have determined that EcoRI cleavage of amplified DNA may be a useful diagnostic tool in the diagnosis of heterozygotes and in prenatal diagnosis of fetuses at risk for this disease.
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