The molecular defect underlying canine fucosidosis
| Autor: | M E Herrtage, Barbara Skelly, D R Sargan, B G Winchester |
|---|---|
| Rok vydání: | 1996 |
| Předmět: |
Fucosidosis
DNA Mutational Analysis Molecular Sequence Data Biology Polymerase Chain Reaction Frameshift mutation Exon Dogs Complementary DNA Genetics medicine Animals Coding region Dog Diseases Cloning Molecular Codon Gene Polymorphism Single-Stranded Conformational Genetics (clinical) alpha-L-Fucosidase Base Sequence Exons medicine.disease Molecular biology Stop codon Chromosome Deletion Primer (molecular biology) Research Article |
| Zdroj: | Journal of Medical Genetics. 33:284-288 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.33.4.284 |
| Popis: | Fucosidosis is a lysosomal storage disease which affects humans and English springer spaniel dogs. The disease is recessively inherited in both species and results from a deficiency of the enzyme alpha-L-fucosidase. We have recently cloned and sequenced the canine fucosidase gene (EMBL sequence admission number X92448 (cDNA) and X92671-X92678 (individual exonic data)). The gene spans 12 kb and consists of eight exons. SSCP based mutation analysis of affected animals was carried out on the coding region of this gene both with exonic primers, and intronic primer pairs for each exon. A 14 base pair deletion of the cDNA was identified at the 3' end of exon 1 in fucosidosis affected animals. Surprisingly, PCR based genomic cloning of DNA from these animals showed an identical deletion in this DNA, ending at the start of intron 1. This change causes a frameshift and, in consequence, 25 novel codons are transcribed in exon 2 before the first of two adjacent premature stop codons is encountered. |
| Databáze: | OpenAIRE |
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