Biomaterial Database

A PCR-based diagnostic test for fucosidosis in English springer spaniels. 1998

N G Holmes, and T Acheson, and E J Ryder, and M M Binns

Centre for Preventive Medicine, Animal Health Trust, Suffolk, U.K. nigel.holmes@aht.org.uk

UI	MeSH Term	Description	Entries
D004283	Dog Diseases	Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used.	Canine Diseases,Canine Disease,Disease, Canine,Disease, Dog,Diseases, Canine,Diseases, Dog,Dog Disease
D004285	Dogs	The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065)	Canis familiaris,Dog
D005091	Exons	The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.	Mini-Exon,Exon,Mini Exon,Mini-Exons
D005644	alpha-L-Fucosidase	An enzyme that catalyzes the hydrolysis of an alpha L-fucoside to yield an alcohol and L-fucose. Deficiency of this enzyme can cause FUCOSIDOSIS. EC 3.2.1.51.	Fucosidase,alpha-Fucosidase,alpha Fucosidase,alpha L Fucosidase
D005645	Fucosidosis	An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)	Fucosidase Deficiency Disease,Alpha-Fucosidase Deficiency,Deficiency Disease, alpha-Fucosidase,Deficiency Disease, alpha-L-Fucosidase,Fucosidase Deficiency,Fucosidosis Type 1,Fucosidosis Type I,Fucosidosis Type II,Fucosidosis, Infantile,Fucosidosis, Juvenile,alpha-Fucosidase Deficiency Disease,alpha-L-Fucosidase Deficiency,alpha-L-Fucosidase Deficiency Disease,Deficiency Disease, Fucosidase,Deficiency Disease, alpha Fucosidase,Deficiency Disease, alpha L Fucosidase,Deficiency Diseases, Fucosidase,Deficiency Diseases, alpha-Fucosidase,Deficiency Diseases, alpha-L-Fucosidase,Disease, Fucosidase Deficiency,Disease, alpha-Fucosidase Deficiency,Disease, alpha-L-Fucosidase Deficiency,Diseases, Fucosidase Deficiency,Diseases, alpha-Fucosidase Deficiency,Diseases, alpha-L-Fucosidase Deficiency,Fucosidase Deficiency Diseases,Fucosidosis Type 1s,Infantile Fucosidosis,Juvenile Fucosidosis,Type 1, Fucosidosis,Type 1s, Fucosidosis,alpha Fucosidase Deficiency Disease,alpha L Fucosidase Deficiency Disease,alpha-Fucosidase Deficiency Diseases,alpha-L-Fucosidase Deficiency Diseases
D006580	Genetic Carrier Screening	Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE.	Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
D000818	Animals	Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA.	Animal,Metazoa,Animalia
D016133	Polymerase Chain Reaction	In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.	Anchored PCR,Inverse PCR,Nested PCR,PCR,Anchored Polymerase Chain Reaction,Inverse Polymerase Chain Reaction,Nested Polymerase Chain Reaction,PCR, Anchored,PCR, Inverse,PCR, Nested,Polymerase Chain Reactions,Reaction, Polymerase Chain,Reactions, Polymerase Chain
D017931	DNA Primers	Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.	DNA Primer,Oligodeoxyribonucleotide Primer,Oligodeoxyribonucleotide Primers,Oligonucleotide Primer,Oligonucleotide Primers,Primer, DNA,Primer, Oligodeoxyribonucleotide,Primer, Oligonucleotide,Primers, DNA,Primers, Oligodeoxyribonucleotide,Primers, Oligonucleotide