Oral and Poster Abstracts

spasm is accompanied by kyphosis, which is often terminated by
tremor of the hindquarters. During the attack one hind leg may be lift
laterally in partial flexion. The literature is lacking in complete
research on Spastic Syndrome and the few reports which included
morphological examinations failed to find significant outcomes and
concluded that the syndrome is a type of idiopathic or true muscle
cramps.
366 Genetic Diseases of the Dexter Breed: Chondrodysplasia and
Hydrops Fetalis with Pulmonary Hypoplasia
I. Tammen, J. Cavanagh, P. Windsor, F. Nicholas, H. Raadsma
Faculty of Veterinary Science - University of Sydney, ReproGen,
Sydney, Australia
A form of dwarfism, commonly known as bulldog dwarfism, has been
reported in Dexter cattle since the 19th century and presents one of the
earliest single-locus gene disorders described in animals. Affected
foetuses display extreme disproportionate dwarfism due to
chondrodysplasia and are aborted or die at birth, whereas heterozygotes
present with a milder form of disproportionate dwarfism - the “shortlegged”
phenotype. We have identified two mutations cosegregating
with the disease in the bovine aggrecan gene (ACAN): a common 4-bp
insertion in exon 11 and a rarer transition in exon 1. Commercial DNA
testing is now available to control this disorder.
367 Genetic Diseases of Japanese Breeds
T. Kunieda
Okayama University, Graduate School of Natural Science and
Technology, Okayama, Japan
In the breeding of domestic animals, selection of economically desired
traits has been the most important consideration for the improvement of
animals, but exclusion of negative factors in animal production, such as
genes for hereditary diseases, is also required for the genetic
improvement of domestic animals. The incidences of many recessive
hereditary diseases have been reported in Japanese beef cattle breeds
and these diseases have caused serious problems for breeding of the
beef cattle. These diseases include Chediak-Higashi syndrome, renal
tubular dysplasia, chondrodysplastic dwarfism, factor XI deficiency,
and congenital eye abnormality. We have identified the mutations
responsible for these diseases by positional or functional cloning
method and established the genotyping systems which can be used for
identification of the carriers of these diseases. The allelic frequencies of
the disease alleles and incidences of these diseases in the population of
the cattle have remarkably reduced by application of these genotyping
systems.
368 Surveillance Programmes for Genetic Recessives: the
Experience of Danish Bovine Genetic Disease Programme
J. Agerholm
University of Copenhagen, Faculty of Life Sciences, Department of
Veterinary Pathobiology, Frederiksberg, Denmark
The Danish bovine genetic disease programme was established in
1989 by the breeding associations, the Faculty of Life Sciences and
the Danish Veterinary and Food Administration. The aim was to
establish a system that could handle suspected cases of
inherited defects and to create a surveillance programme. The
system was founded on research in pathology to ensure a high degree
of diagnostic reliability and it should be able to handle cases
independently of the breeding associations.The programme was
initially faced by problems created by spinal muscular atrophy
(SMA) in Danish Red cattle. The prevalence of SMA seemed to be
very high. The first step was to differentiate between SMA and other
disorders, which automatically led to the second step of identifying
heterozygous sires. Once heterozygous males had been identified,
these could be taken out of service thus reducing the prevalence of
SMA. During the surveillance of SMA, cases were submitted with
other clinical signs, i.e. congenital recumbency. Histopathology
demonstrated myelin defects in the spinal cord, while genealogic
examinations showed a familial pattern. The lesions corresponded to
Spinal Dysmyelination, a disorder already identified by German
researchers. The prevalence was reduced during the following years
by identification and culling of carriers.The bovine leukocyte
332 XXV. Jubilee World Buiatrics Congress 2008
adhesion deficiency (BLAD) was identified in Denmark based on
reports from USA and Japan. The disorder had remained undetected.
The prevalence of BLAD was reduced to around zero within less that
a year, as the molecular basis for the disorder was known and
genotyping tests were available.The Complex Vertebral
Malformation (CVM) syndrome was identified in Denmark in 1999.
Identification of carriers was initially based on progeny
examination, but was rapidly replaced by genotyping thus making a
rapid decrease in prevalence possible. The strength of the Danish
surveillance programme is the solid core of researchers dealing with
inherited disorders, the awareness among veterinarians and cattle
advisers and the high level of pedigree registrations in Danish cattle.
The weakness of the system is the farmers’ reluctance to report
malformed calves while still available for examination and the
difficulties associated with dispatching cases for laboratory
examination. The surveillance focuses on disorders detectable by the
breeder or veterinarian, mostly disorders in the skin, skeletal or
neuromuscular systems.
369 Surveillance Programmes for Genetic Recessives: the
Experience of the French Bovine Genetic Disease
Observatory
A. Eggen 1 , L. Manciaux 2 , S. Floriot 1 , A. Malafosse 3 , A. Ducos 4
1
INRA, Laboratoire de Génétique Biochimique et de Cytogénétique,
Jouy en Josas, France
2
CEIA du Doubts et du Territoire de Belfort, Laboraoire de
Génétique Biochimique et de Cytogénétique, Roulans, France
3
UNCEIA, PARIS, France
4
INRA, Station d'Amelioration Génétique des Animaux, Centre de
Toulouse, Castanet-Tolosan, France
The so called “French Bovine Genetic Disease Observatory” aims at an
early detection of hereditary defects in cattle populations. It was built
up in 2002 by the INRA Department of Animal Genetics and all
representative professional organizations involved in cattle production
and breeding. A standardized sheet allowing the declaration and
description of congenital defects has been widely diffused. More than
2000 individual declarations have been received to date, i.e. between
350 and 550 per year. Eighty percent of these declarations concerned
the Holstein Friesian breed. Only two particular defects were
recurrently reported.
370 The World-database of the Genetic Diseases of the Brown
Breed
L. Casanova
European Brown Swiss Federation, Zug, Switzerland
Genetic defects can only be fought by means of breeding, if they are
recognized and announced in the field. The diagnosis of the defect as
well as the ancestry of the affected animals are to be confirmed by
suitable laboratory procedures. Recognized carriers of genetic defects
have to be marked afterwards. This assures the information of the
breeders. Since bulls are marketed world-wide today, it is
indispensable that the information on genetic defects is interlaced
internationally. In the year 2002, the European Brown Swiss
Federation decided to develop an international data base for genetic
defects in the Brown Swiss breed. This data base is operated by the
Swiss Brown Cattle Breeders' Federation and contains the current
information on the genetic defect status of male animals.
410 The Point of View of the Geneticists: Genetic Analysis of
Congenital Anomalies in Cattle in the Age of the Genome
Sequence
C. Droegemueller
University of Berne, Institute of Animal Breeding, Bern, Switzerland
In the past the molecular genetic analysis of congenital anomalies in
cattle was hindered by limited knowledge of the bovine genome.
Therefore there were only few examples of successful molecular
exploration of particularly monogenic inherited bovine disorders.
With the decision to sequence the bovine genome project the
situation changed in the year 2005 and today we have more or less
excellent genomic resources for studying genetic conditions in
cattle. Recently an appropriate mapping tool (SNP chip) for whole