A nonsense Mutation in the DMRT3 gene has been shown to have a large impact on pattern of locomotion in horses. Horses that can perform several other gaits in addition to the normally occurring gaits, walk, trot and canter, are often hetero (CA)- or homozygous (AA) for this nonsense Mutation. Horses that only can perform walk, trot and canter are often homozygous for the wild-type gene (CC). For example the Icelandic Horse is a gaited breed. Five-gaited Icelandic horses can perform both flying pace and tölt, except for the normally occurring gaits, walk, trot and canter, and are often homozygous for this nonsense Mutation (AA).

Hypertrophic cardiomyopathy (HCM) is the most commonly diagnosed cardiac disease in cats. The phenotype varies from mild focal thickening to severe concentric hypertrophy at the left ventricle. Two separate myosin binding protein C (MYBPC3) Mutations have been identified in Maine coon cats (A31P and A74T) and one in Ragdoll cats. All three of them seem to cause familial HCM in an autosomal dominant pattern. The purpose of this study was to investigate the presence of these three Mutations in population cats of different breeds with HCM in Sweden. The results may show if HCM is present in the absence of these Mutations.

Syftet med denna studie är att undersöka i vilken grad olika fysiska avvikelser kring en humanoids ögon/syn kan framkalla stötande känslor, de fysiska avvikelser som undersöks är: sjukdom, stympning och Mutation. Studien byggde bland annat kring teorier kopplade till attraktivitet och hälsa och undersökte hur man kan använda ohälsa för att väcka stötande känslor.Inför studien skapades totalt åtta porträtt, en för varje fysisk avvikelse samt kön. En enkät skickades sedan ut till män och kvinnor i åldrarna 18-29 där de fick ta ställning till porträtten genom att gradera dem utifrån en 7-siffrig skala.Resultatet i undersökningen visade att majoriteten av respondenterna upplevde den fysiska avvikelse Mutation som mest stötande, detta på grund av dess omänskliga utseende. Det fanns dock en problematik kring användningen av 3D modeller i undersökningen, framtida arbete skulle gynnas av att använda ett annat medium, exempelvis fotografi..

The objectives of this study was to examine the prevalence of hypertrophic cardiomyopathy in a family of British Shorthaircats to determine the mode of inheritance and to investigate if the disease was associated with a Mutation in myosin binding proteinC (MyBPC3). The family comprised 28 cats, seven male and 21 females. The cats underwent a physical examination, including cardiac auscultation, and an ultrasound examination. Blood was collected for DNA- analysis. The blodsamples were sent in a buffer solution to Kathryn Meurs, Washington State University, USA for analysis, where the genes coding for MyBPC, Troponin I and T were characterized using microsequencing technique. Out of the 28 cats, 8 were diagnosed with HCM, 2 were diagnosed with congenital heart disease but had no evidence of HCM.

Genetic defects are caused by Mutations in major genes where the gene?s protein product has a large impact on the physiology of the animal. The synthesis of the protein can be altered by a change in the nucleotide sequence, which can lead to malformation and in many cases death.One of the main reasons of increase in many genetic defects is the use of few bulls in breeding programmes, causing a reduction of the genetic variation. Genetic defects cause suffering for the animal and influences the production by, for example, increased costs due to misscarriages, lost milk production and expenditure for medical treatment. Bovine Leukocyte Adhesion Deficiency (BLAD) and Complex Vertebral Malformation (CVM) are two genetic defects that were widespread before the causative Mutation was discovered.

Rhodesian ridgeback is a dog breed that originates from southern Africa. The characteristic ridge (a dorsal ridge where the hair grows in the opposite direction to the general coat) is shared with an Asian breed, Thai ridgeback. The origin and inheritance of the ridge has been examined and defined. The ridge-Mutation is a duplication that contains four complete genes, FGF3, FGF4, FGF19 and ORAOV1 and the 3´-end of CCND1. The ridge is inherited as an autosomal, dominant trait and predisposes for Dermoid sinus (DS), a disease that develops during embryogenesis.

This study deals with the contribution of the genetic variant lactase persistence among Neolithic people from the Baltic Island Öland. Skeletal remains from twelve individuals went through DNA sequencing in order to find the Mutation that allows adult individuals to digest milk sugar. The twelve individuals were chosen from two different Neolithic sites, where the archaeological and isotopic data suggest that the individuals from Köpingsvik were hunters and gatherers and the individuals from Resmo were early farmers. The individuals with the genetic variant lactase persistence can be described with selection and genetic flow.  Only five individuals produced results and the Mutation was found in two of the subjects. All the individuals who were successfully sequenced came from Resmo, whereasno individuals from Köpingsvik yielded any results.

Ovine black coat colour is determined by the MC1R (Melanocortin 1 receptor) and ASIP (Agouti signalling peptide) genes at the Agouti and Extension loci. The black phenotype is caused by production of eumelanin by melanocytes, whereas yellow-tan or light phenotype is the result of phaeomelanin synthesis. The ovine MC1R gene has two known alleles: the wildtype (E+) and the dominant black (ED) alleles. Two missense Mutations (c.218T>A and c.361G>A) constitute ED. The presence of a third allele, the e allele, is proposed and believed to give rise to phaeomelanic phenotype.

Leber´s hereditary optic neuropathy (LHON), a disease affecting vision, is caused by several point Mutations in mitochondrial DNA. Mutations leading to a defect NADH ubiquinone oxidoreductase protein will affect the respiratory chain and cause a disturbed ATP production. It is still unknown why this defect leads to the degeneration of retinal ganglion cells and cells in the opticus nerve as well as demyelination of axons in these areas. Analysis of mitochondrial DNA is an important tool in the diagnosis of the disease. At the present time analysis is based on cleavage by restriction enzymes, which only detects two of the most frequent Mutations: m.3460G>A and m.11778G>A.

Anthelmintikagruppen bensimidazoler (BZ) har använts på många djurslag sedan början av 1960-talet. BZ verkar genom att hindra ??-tubulin dimerer att bygga på mikrotubuli. Cellernas cytoskelett bryts då ner vilket hämmar många viktiga funktioner som exempelvis förmågan till celldelningar. Att BZ är lågt toxiska mot värddjuret har gjort dem populära, men den frekventa användningen har lett till resistensutveckling hos många nematodarter.

p53 är en transkriptionsfaktor som gör att celler går i apoptos eller undviker cellproliferation vid DNA-skada. Genen inhiberar bl.a. CDK-komplexet och får på så sätt cellcykeln att avstanna i G1-fasen. p53 kodar också för Bax vilket inducerar apoptos i ett flertal celltyper; samt GADD45 som är involverat i DNA-reparation. I normala fall finns p53-proteinet i låga koncentrationer i cellen på grund av dess korta halveringstid (ca 20 min).

American curly hästar har lockig päls och drabbas i vissa fall av hypotrikos vilket innebär håravfall. Många tappar förutom pälsen även manen och svansen när de fäller. Lockig päls förekommer även hos katt, hund, mus och tamråtta samt extremt lockigt eller ulligt hår hos människor. Flera av dessa är även drabbade av hypotrikos. Syftet med denna studie är att studera vilka gener som troligtvis styr utseendet och hälsan hos american curly.

Introduction The genetic skin disease epidermolytic ichtyosis is caused by Mutations in either keratin gene 1 or 10 and leads to blisters and hyperkeratosis of the epidermis. At cellular level the disease is seen as aggregates in the keratin filaments. Since medicines are hard to investigate and produce mainly due to lack of reproducible model systems, there is no good treatment available for this disease today. In this article we describe how an in vitro model consisting of cells from a stable cell line transfected with expression plasmids to mimic patient cells, may be a possible alternative for screening compounds for therapies. The first step was to generate an expression plasmid required to complete the in vitro model.

Malt lymphoma is a malignant disease that can arise in a variety of extra nodal sites. Previous studies indicate that tumour arise from more mature B-cells.Our purpose was to examine the presence of clonality and somatic hyperMutation of immunoglobulin (IgV?) of MALT lymphomas.Paraffin-embedded tumour samples from13 MALT lymphoma were subjected to rearrangement analysis, by using PCR, heteroduplex gels and sequence analysis.Successful amplification was seen in 10/13 cases and sequences of IgV? genes were obtained in 6/13, all of them were mutated. The percentage of Mutation compared to germline sequences was 1,1% to 8,6% monoclonal rearrangemang. It was demonstrated that 5 of 7 clones were derived from the V?3 family, 2 from V?1 and 1 from the V? 4 family..

Bull terrier hereditary nephritis is caused by a Mutation that leads to an inadequate synthesis of collagen type IV, which is an important component in the basement membranes. The inheritance of the Mutation is autosomal dominant in bull terriers and progression to renal failure takes variable time, from several months to ten years. Proteinuria is the first clinical sign of the disease and the diagnosis is confirmed by transmission electron microscopy of renal tissue where typical ultrastructural changes in the glomerular basement membrane (GBM), thickening and multilaminar splitting are found. This study was performed in order to find out the occurrence of hereditary nephritis in bull terriers in Sweden through examination of urine samples and renal tissue and comparisons with how the disease is described in the literature. Urine samples from 76 Swedish bull terriers were collected and examined for proteinuria.