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Fucosidosis in English springer spaniels: Results of a trial screening programme
Author(s) -
BARKER C. G.,
HERRTAGE M. E.,
SHANAHAN F.,
WINCHESTER B. G.
Publication year - 1988
Publication title -
journal of small animal practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.7
H-Index - 67
eISSN - 1748-5827
pISSN - 0022-4510
DOI - 10.1111/j.1748-5827.1988.tb02162.x
Subject(s) - medicine , trait , clinical trial , genetic testing , genetic diagnosis , genetics , gene , biology , computer science , programming language
A trial screening programme for the fucosidosis trait, based on measurement of the enzyme α‐L‐fucosidase in plasma and leucocytes, has been carried out among pedigree English springer spaniels in the United Kingdom. The results show that the disorder is inherited in an autosomal recessive manner and that the underlying genetic defect is prevalent in several pedigree lines. The enzymic test can confirm the diagnosis of the disorder in affected dogs showing clinical signs and can detect affected dogs before clinical signs are observed. Carriers can also be detected but the genetic status of some animals cannot be determined by this enzymic test because there is overlap between the enzyme levels in normal and heterozygous animals. An extensive pedigree incorporating the results of this trial has been constructed to illustrate the path of inheritance and to help identify carriers of the disorder.